Linked Data
dbSNP Id:
rs1372942745
gnomAD v2:
12-129299576-T-TA
gnomAD v4:
12-128815031-T-TA
MyVariant Identifiers:
chr12:g.129299576_129299577insA (hg19)
chr12:g.128815031_128815032insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128815037dup , CM000674.2:g.128815037dup | GRCh38 |
| NC_000012.11:g.129299582dup , CM000674.1:g.129299582dup | GRCh37 |
| NC_000012.10:g.127865535dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266771.10:c.585dup MANE Select | ENSP00000266771.5:p.Asn196Ter | |
| ENST00000266771.9:c.585dup | ENSP00000266771.5:p.Asn196Ter | |
| ENST00000366292.6:n.897dup | ||
| ENST00000376740.8:c.164dup | ||
| ENST00000376744.8:c.421dup | ||
| ENST00000535272.1:n.379dup | ||
| ENST00000539703.1:n.235dup | ||
| NM_145648.3:c.585dup | NP_663623.1:p.Asn196Ter | |
| XM_011537895.1:c.735dup | XP_011536197.1:p.Asn246Ter | |
| XR_429081.2:n.608dup | ||
| XR_944494.1:n.758dup | ||
| XR_944495.1:n.758dup | ||
| XR_944496.1:n.758dup | ||
| XR_944497.1:n.758dup | ||
| XM_017018791.1:c.735dup | XP_016874280.1:p.Asn246Ter | |
| XM_017018792.1:c.735dup | XP_016874281.1:p.Asn246Ter | |
| XM_017018793.1:c.585dup | XP_016874282.1:p.Asn196Ter | |
| XR_002957287.1:n.608dup | ||
| XR_944496.2:n.758dup | ||
| NM_145648.4:c.585dup MANE Select | NP_663623.1:p.Asn196Ter |