Linked Data
dbSNP Id:
rs761191376
ExAC:
17:61574134 G / GCCTC
gnomAD v2:
17-61574134-G-GCCTC
gnomAD v3:
17-63496773-G-GCCTC
gnomAD v4:
17-63496773-G-GCCTC
MyVariant Identifiers:
chr17:g.61574134_61574135insCCTC (hg19)
chr17:g.63496773_63496774insCCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63496777_63496780dup , CM000679.2:g.63496777_63496780dup | GRCh38 |
| NC_000017.10:g.61574138_61574141dup , CM000679.1:g.61574138_61574141dup | GRCh37 |
| NC_000017.9:g.58927870_58927873dup | NCBI36 |
| NG_011648.1:g.24705_24708dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3504-21_3504-18dup MANE Select | ENSP00000290866.4:n.3504-21_3504-18dup | |
| ENST00000290863.10:c.1782-21_1782-18dup | ENSP00000290863.6:n.1782-21_1782-18dup | |
| ENST00000290866.9:c.3504-21_3504-18dup | ENSP00000290866.4:n.3504-21_3504-18dup | |
| ENST00000413513.7:c.1659-21_1659-18dup | ENSP00000392247.3:n.1659-21_1659-18dup | |
| ENST00000428043.5:c.3504-21_3504-18dup | ENSP00000397593.2:n.3504-21_3504-18dup | |
| ENST00000577418.5:n.514-21_514-18dup | ||
| ENST00000577647.2:c.1782-21_1782-18dup | ENSP00000464149.1:n.1782-21_1782-18dup | |
| ENST00000578839.5:c.*1259-21_*1259-18dup | ENSP00000462110.2:n.*1259-21_*1259-18dup | |
| ENST00000579314.5:c.*1233-21_*1233-18dup | ENSP00000462599.1:n.*1233-21_*1233-18dup | |
| ENST00000579409.1:c.191-21_191-18dup | ||
| ENST00000582244.1:n.378-21_378-18dup | ||
| NM_000789.3:c.3504-21_3504-18dup | NP_000780.1:n.3504-21_3504-18dup | |
| NM_001178057.1:c.1659-21_1659-18dup | NP_001171528.1:n.1659-21_1659-18dup | |
| NM_152830.2:c.1782-21_1782-18dup | NP_690043.1:n.1782-21_1782-18dup | |
| XM_005257110.1:c.2955-21_2955-18dup | XP_005257167.1:n.2955-21_2955-18dup | |
| XM_006721737.2:c.1842-21_1842-18dup | XP_006721800.2:n.1842-21_1842-18dup | |
| XM_006721737.3:c.1842-21_1842-18dup | XP_006721800.2:n.1842-21_1842-18dup | |
| NM_000789.4:c.3504-21_3504-18dup MANE Select | NP_000780.1:n.3504-21_3504-18dup | |
| NM_001178057.2:c.1659-21_1659-18dup | NP_001171528.1:n.1659-21_1659-18dup | |
| NM_152830.3:c.1782-21_1782-18dup | NP_690043.1:n.1782-21_1782-18dup | |
| NM_001382700.1:c.2937-21_2937-18dup | NP_001369629.1:n.2937-21_2937-18dup | |
| NM_001382701.1:c.2652-21_2652-18dup | NP_001369630.1:n.2652-21_2652-18dup | |
| NM_001382702.1:c.1119-21_1119-18dup | NP_001369631.1:n.1119-21_1119-18dup | |
| NR_168483.1:n.1882-21_1882-18dup |