Linked Data
dbSNP Id:
rs1561391497
gnomAD v2:
5-52954631-A-AAC
gnomAD v3:
5-53658801-A-AAC
gnomAD v4:
5-53658801-A-AAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53658802_53658803insCA , CM000667.2:g.53658802_53658803insCA | GRCh38 |
| NC_000005.9:g.52954632_52954633insCA , CM000667.1:g.52954632_52954633insCA | GRCh37 |
| NC_000005.8:g.52990389_52990390insCA | NCBI36 |
| NG_008200.1:g.103168_103169insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.424+178_424+179insCA MANE Select | ENSP00000296684.5:n.424+178_424+179insCA | |
| ENST00000296684.9:c.424+178_424+179insCA | ENSP00000296684.5:n.424+178_424+179insCA | |
| ENST00000502423.5:c.*291+178_*291+179insCA | ENSP00000422177.1:n.*291+178_*291+179insCA | |
| ENST00000506765.1:c.338+12397_338+12398insCA | ENSP00000424570.1:n.338+12397_338+12398insCA | |
| ENST00000506974.5:c.*200+178_*200+179insCA | ENSP00000425967.1:n.*200+178_*200+179insCA | |
| ENST00000507026.5:c.*398+178_*398+179insCA | ENSP00000424993.1:n.*398+178_*398+179insCA | |
| NM_002495.2:c.424+178_424+179insCA | NP_002486.1:n.424+178_424+179insCA | |
| XM_005248525.3:c.350+12397_350+12398insCA | XP_005248582.1:n.350+12397_350+12398insCA | |
| XM_011543415.1:c.250+178_250+179insCA | XP_011541717.1:n.250+178_250+179insCA | |
| NM_001318051.1:c.350+12397_350+12398insCA | NP_001304980.1:n.350+12397_350+12398insCA | |
| NM_002495.3:c.424+178_424+179insCA | NP_002486.1:n.424+178_424+179insCA | |
| NR_134473.1:n.626+178_626+179insCA | ||
| NR_134474.1:n.543+178_543+179insCA | ||
| NR_134475.1:n.578+178_578+179insCA | ||
| NM_002495.4:c.424+178_424+179insCA MANE Select | NP_002486.1:n.424+178_424+179insCA | |
| NM_001318051.2:c.350+12397_350+12398insCA | NP_001304980.1:n.350+12397_350+12398insCA | |
| NR_134473.2:n.620+178_620+179insCA | ||
| NR_134474.2:n.537+178_537+179insCA | ||
| NR_134475.2:n.572+178_572+179insCA |