Linked Data
dbSNP Id:
rs41298430
gnomAD v2:
14-55344047-TACA-T
gnomAD v3:
14-54877329-TACA-T
gnomAD v4:
14-54877329-TACA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54877336_54877338del , CM000676.2:g.54877336_54877338del | GRCh38 |
| NC_000014.8:g.55344054_55344056del , CM000676.1:g.55344054_55344056del | GRCh37 |
| NC_000014.7:g.54413804_54413806del | NCBI36 |
| NG_008647.1:g.30493_30495del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000491895.7:c.344-11896_344-11894del MANE Select | ENSP00000419045.2:n.344-11896_344-11894de... | |
| ENST00000254299.8:n.492-11896_492-11894del | ||
| ENST00000395514.5:c.344-11896_344-11894del | ENSP00000378890.1:n.344-11896_344-11894de... | |
| ENST00000395521.6:n.127-11896_127-11894del | ||
| ENST00000491895.6:c.344-11896_344-11894del | ENSP00000419045.2:n.344-11896_344-11894de... | |
| ENST00000536224.2:c.344-11896_344-11894del | ENSP00000445246.2:n.344-11896_344-11894de... | |
| ENST00000543643.6:c.344-11896_344-11894del | ENSP00000444011.2:n.344-11896_344-11894de... | |
| ENST00000622544.4:c.344-11896_344-11894del | ENSP00000477796.1:n.344-11896_344-11894de... | |
| NM_000161.2:c.344-11896_344-11894del | NP_000152.1:n.344-11896_344-11894del | |
| NM_001024024.1:c.344-11896_344-11894del | NP_001019195.1:n.344-11896_344-11894del | |
| NM_001024070.1:c.344-11896_344-11894del | NP_001019241.1:n.344-11896_344-11894del | |
| NM_001024071.1:c.344-11896_344-11894del | NP_001019242.1:n.344-11896_344-11894del | |
| XM_005267530.1:c.344-11896_344-11894del | XP_005267587.1:n.344-11896_344-11894del | |
| XM_011536643.1:c.344-11896_344-11894del | XP_011534945.1:n.344-11896_344-11894del | |
| XM_017021218.1:c.49+4210_49+4212del | XP_016876707.1:n.49+4210_49+4212del | |
| NM_000161.3:c.344-11896_344-11894del MANE Select | NP_000152.1:n.344-11896_344-11894del | |
| NM_001024070.2:c.344-11896_344-11894del | NP_001019241.1:n.344-11896_344-11894del | |
| NM_001024071.2:c.344-11896_344-11894del | NP_001019242.1:n.344-11896_344-11894del | |
| NM_001024024.2:c.344-11896_344-11894del | NP_001019195.1:n.344-11896_344-11894del |