Linked Data
dbSNP Id:
rs1253260585
gnomAD v2:
13-113803708-G-GA
gnomAD v3:
13-113149394-G-GA
gnomAD v4:
13-113149394-G-GA
MyVariant Identifiers:
chr13:g.113803708_113803709insA (hg19)
chr13:g.113149394_113149395insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149394_113149395insA , CM000675.2:g.113149394_113149395insA | GRCh38 |
| NC_000013.10:g.113803708_113803709insA , CM000675.1:g.113803708_113803709insA | GRCh37 |
| NC_000013.9:g.112851709_112851710insA | NCBI36 |
| NG_009258.1:g.31596_31597insA , LRG_548:g.31596_31597insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375559.8:c.1344_1345insA MANE Select | ENSP00000364709.3:p.Tyr449IlefsTer? | |
| ENST00000375551.7:c.*335_*336insA | ENSP00000364701.3:n.*335_*336insA | |
| ENST00000375559.7:c.1344_1345insA | ENSP00000364709.3:p.Tyr449IlefsTer? | |
| ENST00000409306.5:c.*335_*336insA | ENSP00000387092.1:n.*335_*336insA | |
| NM_000504.3:c.1344_1345insA , LRG_548t1:c.1344_1345insA | NP_000495.1:p.Tyr449IlefsTer? | |
| NM_001312674.1:c.1212_1213insA | NP_001299603.1:p.Tyr405IlefsTer? | |
| NM_001312675.1:c.*335_*336insA | NP_001299604.1:n.*335_*336insA | |
| NM_000504.4:c.1344_1345insA MANE Select | NP_000495.1:p.Tyr449IlefsTer? | |
| NM_001312674.2:c.1212_1213insA | NP_001299603.1:p.Tyr405IlefsTer? | |
| NM_001312675.2:c.*335_*336insA | NP_001299604.1:n.*335_*336insA |