WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
dbSNP Id:
rs281864940
MyVariant Identifiers:
chr3:g.37092028_37092029insATGTGTTCCACA (hg19)
chr3:g.37050537_37050538insATGTGTTCCACA (hg38)
PubMed:
PMID:15365996
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37050537_37050538insATGTGTTCCACA , CM000665.2:g.37050537_37050538insATGTGTTCCACA | GRCh38 |
| NC_000003.11:g.37092028_37092029insATGTGTTCCACA , CM000665.1:g.37092028_37092029insATGTGTTCCACA | GRCh37 |
| NC_000003.10:g.37067032_37067033insATGTGTTCCACA | NCBI36 |
| NG_007109.2:g.62188_62189insATGTGTTCCACA , LRG_216:g.62188_62189insATGTGTTCCACA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.1719_1720insATGTGTTCCACA | ENSP00000416476.2:p.Thr573_Leu574insMetCy... | |
| ENST00000429117.6:c.1861_1862insATGTGTTCCACA | ENSP00000407019.2:p.His620_Ile621insAsnVa... | |
| ENST00000456676.7:c.1948_1949insATGTGTTCCACA | ENSP00000416687.3:p.His649_Ile650insAsnVa... | |
| ENST00000492474.6:c.1432_1433insATGTGTTCCACA | ENSP00000518393.1:p.His477_Ile478insAsnVa... | |
| ENST00000616768.6:c.2062_2063insATGTGTTCCACA | ENSP00000480669.3:p.His687_Ile688insAsnVa... | |
| ENST00000673673.2:c.1990_1991insATGTGTTCCACA | ENSP00000500979.2:p.His663_Ile664insAsnVa... | |
| ENST00000231790.8:c.2155_2156insATGTGTTCCACA MANE Select | ENSP00000231790.3:p.His718_Ile719insAsnVa... | |
| ENST00000413212.2:c.*1073_*1074insATGTGTTCCACA | ENSP00000400844.2:n.*1073_*1074insATGTGTT... | |
| ENST00000432299.6:c.*1987_*1988insATGTGTTCCACA | ENSP00000416783.1:n.*1987_*1988insATGTGTT... | |
| ENST00000447829.6:c.*1266_*1267insATGTGTTCCACA | ENSP00000399329.2:n.*1266_*1267insATGTGTT... | |
| ENST00000539477.6:c.1432_1433insATGTGTTCCACA | ENSP00000443665.1:p.His477_Ile478insAsnVa... | |
| ENST00000616768.5:c.1099_1100insATGTGTTCCACA | ENSP00000480669.2:p.His366_Ile367insAsnVa... | |
| ENST00000673673.1:c.1943_1944insATGTGTTCCACA | ||
| ENST00000673741.1:n.1189_1190insATGTGTTCCACA | ||
| ENST00000673889.1:n.1537_1538insATGTGTTCCACA | ||
| ENST00000673897.1:c.*1947_*1948insATGTGTTCCACA | ENSP00000501109.1:n.*1947_*1948insATGTGTT... | |
| ENST00000673899.1:c.1423_1424insATGTGTTCCACA | ENSP00000501030.1:p.His474_Ile475insAsnVa... | |
| ENST00000673947.1:c.*2295_*2296insATGTGTTCCACA | ENSP00000501304.1:n.*2295_*2296insATGTGTT... | |
| ENST00000673972.1:c.*2033_*2034insATGTGTTCCACA | ENSP00000501281.1:n.*2033_*2034insATGTGTT... | |
| ENST00000674019.1:c.1432_1433insATGTGTTCCACA | ENSP00000501081.1:p.His477_Ile478insAsnVa... | |
| ENST00000674111.1:c.*384_*385insATGTGTTCCACA | ENSP00000501162.1:n.*384_*385insATGTGTTCC... | |
| ENST00000674125.1:n.866_867insATGTGTTCCACA | ||
| ENST00000231790.6:c.2155_2156insATGTGTTCCACA | ENSP00000231790.2:p.His718_Ile719insAsnVa... | |
| ENST00000435176.5:c.1861_1862insATGTGTTCCACA | ENSP00000402564.1:p.His620_Ile621insAsnVa... | |
| ENST00000455445.6:c.1432_1433insATGTGTTCCACA | ENSP00000398272.2:p.His477_Ile478insAsnVa... | |
| ENST00000456676.6:c.1923_1924insATGTGTTCCACA | ||
| ENST00000458205.6:c.1432_1433insATGTGTTCCACA | ENSP00000402667.2:p.His477_Ile478insAsnVa... | |
| ENST00000536378.5:c.1432_1433insATGTGTTCCACA | ENSP00000444286.2:p.His477_Ile478insAsnVa... | |
| ENST00000539477.5:c.1432_1433insATGTGTTCCACA | ENSP00000443665.1:p.His477_Ile478insAsnVa... | |
| NM_000249.3:c.2155_2156insATGTGTTCCACA , LRG_216t1:c.2155_2156insATGTGTTCCACA | NP_000240.1:p.His718_Ile719insAsnValPheHi... | |
| NM_001167617.1:c.1861_1862insATGTGTTCCACA | NP_001161089.1:p.His620_Ile621insAsnValPh... | |
| NM_001167618.1:c.1432_1433insATGTGTTCCACA | NP_001161090.1:p.His477_Ile478insAsnValPh... | |
| NM_001167619.1:c.1432_1433insATGTGTTCCACA | NP_001161091.1:p.His477_Ile478insAsnValPh... | |
| NM_001258271.1:c.1948_1949insATGTGTTCCACA | NP_001245200.1:p.His649_Ile650insAsnValPh... | |
| NM_001258273.1:c.1432_1433insATGTGTTCCACA | NP_001245202.1:p.His477_Ile478insAsnValPh... | |
| NM_001258274.1:c.1432_1433insATGTGTTCCACA | NP_001245203.1:p.His477_Ile478insAsnValPh... | |
| XM_005265161.1:c.1948_1949insATGTGTTCCACA | XP_005265218.1:p.His649_Ile650insAsnValPh... | |
| XM_005265163.1:c.1432_1433insATGTGTTCCACA | XP_005265220.1:p.His477_Ile478insAsnValPh... | |
| XM_005265164.1:c.1432_1433insATGTGTTCCACA | XP_005265221.1:p.His477_Ile478insAsnValPh... | |
| XM_005265166.1:c.1132_1133insATGTGTTCCACA | XP_005265223.1:p.His377_Ile378insAsnValPh... | |
| XM_011533727.1:c.1081_1082insATGTGTTCCACA | XP_011532029.1:p.His360_Ile361insAsnValPh... | |
| NM_001167617.2:c.1861_1862insATGTGTTCCACA | NP_001161089.1:p.His620_Ile621insAsnValPh... | |
| NM_001167618.2:c.1432_1433insATGTGTTCCACA | NP_001161090.1:p.His477_Ile478insAsnValPh... | |
| NM_001167619.2:c.1432_1433insATGTGTTCCACA | NP_001161091.1:p.His477_Ile478insAsnValPh... | |
| NM_001258274.2:c.1432_1433insATGTGTTCCACA | NP_001245203.1:p.His477_Ile478insAsnValPh... | |
| NM_001354615.1:c.1432_1433insATGTGTTCCACA | NP_001341544.1:p.His477_Ile478insAsnValPh... | |
| NM_001354616.1:c.1432_1433insATGTGTTCCACA | NP_001341545.1:p.His477_Ile478insAsnValPh... | |
| NM_001354617.1:c.1432_1433insATGTGTTCCACA | NP_001341546.1:p.His477_Ile478insAsnValPh... | |
| NM_001354618.1:c.1432_1433insATGTGTTCCACA | NP_001341547.1:p.His477_Ile478insAsnValPh... | |
| NM_001354619.1:c.1432_1433insATGTGTTCCACA | NP_001341548.1:p.His477_Ile478insAsnValPh... | |
| NM_001354620.1:c.1861_1862insATGTGTTCCACA | NP_001341549.1:p.His620_Ile621insAsnValPh... | |
| NM_001354621.1:c.1132_1133insATGTGTTCCACA | NP_001341550.1:p.His377_Ile378insAsnValPh... | |
| NM_001354622.1:c.1132_1133insATGTGTTCCACA | NP_001341551.1:p.His377_Ile378insAsnValPh... | |
| NM_001354623.1:c.1132_1133insATGTGTTCCACA | NP_001341552.1:p.His377_Ile378insAsnValPh... | |
| NM_001354624.1:c.1081_1082insATGTGTTCCACA | NP_001341553.1:p.His360_Ile361insAsnValPh... | |
| NM_001354625.1:c.1081_1082insATGTGTTCCACA | NP_001341554.1:p.His360_Ile361insAsnValPh... | |
| NM_001354626.1:c.1081_1082insATGTGTTCCACA | NP_001341555.1:p.His360_Ile361insAsnValPh... | |
| NM_001354627.1:c.1081_1082insATGTGTTCCACA | NP_001341556.1:p.His360_Ile361insAsnValPh... | |
| NM_001354628.1:c.2062_2063insATGTGTTCCACA | NP_001341557.1:p.His687_Ile688insAsnValPh... | |
| NM_001354629.1:c.2056_2057insATGTGTTCCACA | NP_001341558.1:p.His685_Ile686insAsnValPh... | |
| NM_001354630.1:c.1990_1991insATGTGTTCCACA | NP_001341559.1:p.His663_Ile664insAsnValPh... | |
| XM_005265161.2:c.1948_1949insATGTGTTCCACA | XP_005265218.1:p.His649_Ile650insAsnValPh... | |
| XM_017006450.2:c.1132_1133insATGTGTTCCACA | XP_016861939.1:p.His377_Ile378insAsnValPh... | |
| NM_000249.4:c.2155_2156insATGTGTTCCACA MANE Select | NP_000240.1:p.His718_Ile719insAsnValPheHi... | |
| NM_001167617.3:c.1861_1862insATGTGTTCCACA | NP_001161089.1:p.His620_Ile621insAsnValPh... | |
| NM_001167618.3:c.1432_1433insATGTGTTCCACA | NP_001161090.1:p.His477_Ile478insAsnValPh... | |
| NM_001167619.3:c.1432_1433insATGTGTTCCACA | NP_001161091.1:p.His477_Ile478insAsnValPh... | |
| NM_001258271.2:c.1948_1949insATGTGTTCCACA | NP_001245200.1:p.His649_Ile650insAsnValPh... | |
| NM_001258273.2:c.1432_1433insATGTGTTCCACA | NP_001245202.1:p.His477_Ile478insAsnValPh... | |
| NM_001258274.3:c.1432_1433insATGTGTTCCACA | NP_001245203.1:p.His477_Ile478insAsnValPh... | |
| NM_001354615.2:c.1432_1433insATGTGTTCCACA | NP_001341544.1:p.His477_Ile478insAsnValPh... | |
| NM_001354616.2:c.1432_1433insATGTGTTCCACA | NP_001341545.1:p.His477_Ile478insAsnValPh... | |
| NM_001354617.2:c.1432_1433insATGTGTTCCACA | NP_001341546.1:p.His477_Ile478insAsnValPh... | |
| NM_001354618.2:c.1432_1433insATGTGTTCCACA | NP_001341547.1:p.His477_Ile478insAsnValPh... | |
| NM_001354619.2:c.1432_1433insATGTGTTCCACA | NP_001341548.1:p.His477_Ile478insAsnValPh... | |
| NM_001354620.2:c.1861_1862insATGTGTTCCACA | NP_001341549.1:p.His620_Ile621insAsnValPh... | |
| NM_001354621.2:c.1132_1133insATGTGTTCCACA | NP_001341550.1:p.His377_Ile378insAsnValPh... | |
| NM_001354622.2:c.1132_1133insATGTGTTCCACA | NP_001341551.1:p.His377_Ile378insAsnValPh... | |
| NM_001354623.2:c.1132_1133insATGTGTTCCACA | NP_001341552.1:p.His377_Ile378insAsnValPh... | |
| NM_001354624.2:c.1081_1082insATGTGTTCCACA | NP_001341553.1:p.His360_Ile361insAsnValPh... | |
| NM_001354625.2:c.1081_1082insATGTGTTCCACA | NP_001341554.1:p.His360_Ile361insAsnValPh... | |
| NM_001354626.2:c.1081_1082insATGTGTTCCACA | NP_001341555.1:p.His360_Ile361insAsnValPh... | |
| NM_001354627.2:c.1081_1082insATGTGTTCCACA | NP_001341556.1:p.His360_Ile361insAsnValPh... | |
| NM_001354628.2:c.2062_2063insATGTGTTCCACA | NP_001341557.1:p.His687_Ile688insAsnValPh... | |
| NM_001354629.2:c.2056_2057insATGTGTTCCACA | NP_001341558.1:p.His685_Ile686insAsnValPh... | |
| NM_001354630.2:c.1990_1991insATGTGTTCCACA | NP_001341559.1:p.His663_Ile664insAsnValPh... |