Linked Data
dbSNP Id:
rs769930807
gnomAD v2:
12-115112676-G-GCGTTATCT
gnomAD v4:
12-114674871-G-GCGTTATCT
MyVariant Identifiers:
chr12:g.115112676_115112677insCGTTATCT (hg19)
chr12:g.114674871_114674872insCGTTATCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114674873_114674880dup , CM000674.2:g.114674873_114674880dup | GRCh38 |
| NC_000012.11:g.115112678_115112685dup , CM000674.1:g.115112678_115112685dup | GRCh37 |
| NC_000012.10:g.113597061_113597068dup | NCBI36 |
| NG_008315.1:g.14286_14293dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.1040-44_1040-37dup MANE Select | ENSP00000257567.2:n.1040-44_1040-37dup | |
| ENST00000257566.7:c.1100-44_1100-37dup | ENSP00000257566.3:n.1100-44_1100-37dup | |
| ENST00000349155.6:c.1040-44_1040-37dup | ENSP00000257567.2:n.1040-44_1040-37dup | |
| ENST00000613550.1:c.1040-44_1040-37dup | ENSP00000480048.1:n.1040-44_1040-37dup | |
| NM_005996.3:c.1040-44_1040-37dup | NP_005987.3:n.1040-44_1040-37dup | |
| NM_016569.3:c.1100-44_1100-37dup | NP_057653.3:n.1100-44_1100-37dup | |
| NM_005996.4:c.1040-44_1040-37dup MANE Select | NP_005987.3:n.1040-44_1040-37dup | |
| NM_016569.4:c.1100-44_1100-37dup | NP_057653.3:n.1100-44_1100-37dup |