Linked Data
dbSNP Id:
rs1334583092
gnomAD v2:
1-227073390-T-TGGC
gnomAD v4:
1-226885689-T-TGGC
MyVariant Identifiers:
chr1:g.227073390_227073391insGGC (hg19)
chr1:g.226885689_226885690insGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226885690_226885692dup , CM000663.2:g.226885690_226885692dup | GRCh38 |
| NC_000001.10:g.227073391_227073393dup , CM000663.1:g.227073391_227073393dup | GRCh37 |
| NC_000001.9:g.225140014_225140016dup | NCBI36 |
| NG_007381.1:g.20119_20121dup | |
| NG_007381.2:g.20507_20509dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.498+11_498+13dup | ENSP00000355741.2:n.498+11_498+13dup | |
| ENST00000366782.6:c.498+11_498+13dup | ENSP00000355746.2:n.498+11_498+13dup | |
| ENST00000366783.8:c.498+11_498+13dup MANE Select | ENSP00000355747.3:n.498+11_498+13dup | |
| ENST00000524196.6:c.498+11_498+13dup | ENSP00000429036.2:n.498+11_498+13dup | |
| ENST00000626989.3:c.498+11_498+13dup | ENSP00000486498.2:n.498+11_498+13dup | |
| ENST00000676467.1:c.*328+11_*328+13dup | ENSP00000504294.1:n.*328+11_*328+13dup | |
| ENST00000676747.1:c.498+11_498+13dup | ENSP00000503244.1:n.498+11_498+13dup | |
| ENST00000676840.1:c.498+11_498+13dup | ENSP00000504318.1:n.498+11_498+13dup | |
| ENST00000676884.1:c.498+11_498+13dup | ENSP00000503200.1:n.498+11_498+13dup | |
| ENST00000676888.1:c.498+11_498+13dup | ENSP00000504483.1:n.498+11_498+13dup | |
| ENST00000676907.1:c.*77+11_*77+13dup | ENSP00000504410.1:n.*77+11_*77+13dup | |
| ENST00000676945.1:c.498+11_498+13dup | ENSP00000504433.1:n.498+11_498+13dup | |
| ENST00000677065.1:n.1059+11_1059+13dup | ||
| ENST00000677414.1:c.498+11_498+13dup | ENSP00000503116.1:n.498+11_498+13dup | |
| ENST00000677529.1:n.936+11_936+13dup | ||
| ENST00000677596.1:c.*405+11_*405+13dup | ENSP00000503618.1:n.*405+11_*405+13dup | |
| ENST00000677599.1:c.498+11_498+13dup | ENSP00000503673.1:n.498+11_498+13dup | |
| ENST00000677748.1:n.936+11_936+13dup | ||
| ENST00000677880.1:c.66+11_66+13dup | ENSP00000503121.1:n.66+11_66+13dup | |
| ENST00000678021.1:c.*121+11_*121+13dup | ENSP00000504674.1:n.*121+11_*121+13dup | |
| ENST00000678233.1:c.498+11_498+13dup | ENSP00000504728.1:n.498+11_498+13dup | |
| ENST00000678320.1:c.498+11_498+13dup | ENSP00000503680.1:n.498+11_498+13dup | |
| ENST00000678655.1:c.498+11_498+13dup | ENSP00000504230.1:n.498+11_498+13dup | |
| ENST00000678706.1:c.498+11_498+13dup | ENSP00000503659.1:n.498+11_498+13dup | |
| ENST00000678776.1:c.*328+11_*328+13dup | ENSP00000504624.1:n.*328+11_*328+13dup | |
| ENST00000678784.1:c.498+11_498+13dup | ENSP00000504652.1:n.498+11_498+13dup | |
| ENST00000678820.1:c.498+11_498+13dup | ENSP00000504138.1:n.498+11_498+13dup | |
| ENST00000678835.1:c.498+11_498+13dup | ENSP00000504343.1:n.498+11_498+13dup | |
| ENST00000679088.1:c.498+11_498+13dup | ENSP00000504727.1:n.498+11_498+13dup | |
| ENST00000679098.1:c.498+11_498+13dup | ENSP00000504303.1:n.498+11_498+13dup | |
| ENST00000366782.5:c.597+11_597+13dup | ENSP00000355746.1:n.597+11_597+13dup | |
| ENST00000366783.7:c.498+11_498+13dup | ENSP00000355747.3:n.498+11_498+13dup | |
| ENST00000422240.6:c.498+11_498+13dup | ENSP00000403737.2:n.498+11_498+13dup | |
| ENST00000460775.5:c.-21-2401_-21-2399dup | ENSP00000427912.1:n.-21-2401_-21-2399dup | |
| ENST00000472139.2:c.66+11_66+13dup | ENSP00000427806.1:n.66+11_66+13dup | |
| ENST00000626989.2:c.597+11_597+13dup | ENSP00000486498.1:n.597+11_597+13dup | |
| NM_000447.2:c.498+11_498+13dup | NP_000438.2:n.498+11_498+13dup | |
| NM_012486.2:c.498+11_498+13dup | NP_036618.2:n.498+11_498+13dup | |
| XM_005273199.2:c.498+11_498+13dup | XP_005273256.1:n.498+11_498+13dup | |
| XM_011544236.1:c.66+11_66+13dup | XP_011542538.1:n.66+11_66+13dup | |
| XR_949149.1:n.925+11_925+13dup | ||
| XR_949150.1:n.925+11_925+13dup | ||
| XM_005273199.4:c.498+11_498+13dup | XP_005273256.1:n.498+11_498+13dup | |
| XM_017001835.1:c.498+11_498+13dup | XP_016857324.1:n.498+11_498+13dup | |
| XM_017001836.1:c.498+11_498+13dup | XP_016857325.1:n.498+11_498+13dup | |
| XR_001737316.2:n.903+11_903+13dup | ||
| XR_001737317.2:n.903+11_903+13dup | ||
| XR_001737318.2:n.903+11_903+13dup | ||
| XR_001737319.1:n.1246+11_1246+13dup | ||
| XR_001737320.1:n.1246+11_1246+13dup | ||
| XR_001737321.1:n.738+11_738+13dup | ||
| XR_949149.2:n.903+11_903+13dup | ||
| XR_949150.3:n.903+11_903+13dup | ||
| NM_000447.3:c.498+11_498+13dup MANE Select | NP_000438.2:n.498+11_498+13dup | |
| NM_012486.3:c.498+11_498+13dup | NP_036618.2:n.498+11_498+13dup |