Linked Data
dbSNP Id:
rs1555379656
gnomAD v2:
13-115090430-ATCT-A
gnomAD v3:
13-114324955-ATCT-A
gnomAD v4:
13-114324955-ATCT-A
COSMIC:
COSM5650120
MyVariant Identifiers:
chr13:g.115090431_115090433del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.114324958_114324960del , CM000675.2:g.114324958_114324960del | GRCh38 |
| NC_000013.10:g.115090433_115090435del , CM000675.1:g.115090433_115090435del | GRCh37 |
| NC_000013.9:g.114108535_114108537del | NCBI36 |
| NG_051829.1:g.15624_15626del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643483.2:c.1116_1118del | ENSP00000496699.1:p.Ser373del | |
| ENST00000644294.2:c.1116_1118del | ENSP00000495985.2:p.Ser373del | |
| ENST00000645174.2:c.1116_1118del | ENSP00000494031.2:p.Ser373del | |
| ENST00000700527.1:c.1116_1118del | ENSP00000515032.1:p.Ser373del | |
| ENST00000700528.1:c.1116_1118del | ENSP00000515033.1:p.Ser373del | |
| ENST00000361283.4:c.1116_1118del MANE Select | ENSP00000354730.1:p.Ser373del | |
| ENST00000643483.1:c.1116_1118del | ENSP00000496699.1:p.Ser373del | |
| ENST00000646155.1:n.123+10315_123+10317del | ||
| ENST00000646956.1:n.285+3726_285+3728del | ||
| ENST00000361283.2:c.1116_1118del | ENSP00000354730.1:p.Ser373del | |
| NM_001164144.1:c.1116_1118del | NP_001157616.1:p.Ser373del | |
| NM_001164145.1:c.1116_1118del | NP_001157617.1:p.Ser373del | |
| NM_032436.2:c.1116_1118del | NP_115812.1:p.Ser373del | |
| NM_001164144.2:c.1116_1118del | NP_001157616.1:p.Ser373del | |
| NM_001164145.2:c.1116_1118del | NP_001157617.1:p.Ser373del | |
| NM_032436.3:c.1116_1118del | NP_115812.1:p.Ser373del | |
| NM_032436.4:c.1116_1118del MANE Select | NP_115812.1:p.Ser373del | |
| NM_001164144.3:c.1116_1118del | NP_001157616.1:p.Ser373del | |
| NM_001164145.3:c.1116_1118del | NP_001157617.1:p.Ser373del |