Linked Data
dbSNP Id:
rs1475665588
gnomAD v2:
12-115112621-A-ACCCTCG
gnomAD v4:
12-114674816-A-ACCCTCG
MyVariant Identifiers:
chr12:g.115112621_115112622insCCCTCG (hg19)
chr12:g.114674816_114674817insCCCTCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114674818_114674823dup , CM000674.2:g.114674818_114674823dup | GRCh38 |
| NC_000012.11:g.115112623_115112628dup , CM000674.1:g.115112623_115112628dup | GRCh37 |
| NC_000012.10:g.113597006_113597011dup | NCBI36 |
| NG_008315.1:g.14343_14348dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.1053_1058dup MANE Select | ENSP00000257567.2:p.Gly353_Glu354insGluGly | |
| ENST00000257566.7:c.1113_1118dup | ENSP00000257566.3:p.Gly373_Glu374insGluGly | |
| ENST00000349155.6:c.1053_1058dup | ENSP00000257567.2:p.Gly353_Glu354insGluGly | |
| ENST00000613550.1:c.1053_1058dup | ENSP00000480048.1:p.Gly353_Glu354insGluGly | |
| NM_005996.3:c.1053_1058dup | NP_005987.3:p.Gly353_Glu354insGluGly | |
| NM_016569.3:c.1113_1118dup | NP_057653.3:p.Gly373_Glu374insGluGly | |
| NM_005996.4:c.1053_1058dup MANE Select | NP_005987.3:p.Gly353_Glu354insGluGly | |
| NM_016569.4:c.1113_1118dup | NP_057653.3:p.Gly373_Glu374insGluGly |