Linked Data
dbSNP Id:
rs1566658503
gnomAD v2:
14-55310418-AC-A
gnomAD v3:
14-54843700-AC-A
gnomAD v4:
14-54843700-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54843701del , CM000676.2:g.54843701del | GRCh38 |
| NC_000014.8:g.55310419del , CM000676.1:g.55310419del | GRCh37 |
| NC_000014.7:g.54380169del | NCBI36 |
| NG_008647.1:g.64124del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491895.7:c.*316del MANE Select | ENSP00000419045.2:n.*316del | |
| ENST00000254299.8:n.1217del | ||
| ENST00000395514.5:c.*16+300del | ENSP00000378890.1:n.*16+300del | |
| ENST00000395521.6:n.293-647del | ||
| ENST00000491895.6:c.*316del | ENSP00000419045.2:n.*316del | |
| ENST00000536224.2:c.627-647del | ENSP00000445246.2:n.627-647del | |
| ENST00000543643.6:c.*12+81del | ENSP00000444011.2:n.*12+81del | |
| ENST00000622544.4:c.*316del | ENSP00000477796.1:n.*316del | |
| NM_000161.2:c.*316del | NP_000152.1:n.*316del | |
| NM_001024024.1:c.*16+300del | NP_001019195.1:n.*16+300del | |
| NM_001024070.1:c.*12+81del | NP_001019241.1:n.*12+81del | |
| NM_001024071.1:c.627-647del | NP_001019242.1:n.627-647del | |
| XM_005267530.1:c.*93del | XP_005267587.1:n.*93del | |
| XM_017021218.1:c.*316del | XP_016876707.1:n.*316del | |
| NM_000161.3:c.*316del MANE Select | NP_000152.1:n.*316del | |
| NM_001024070.2:c.*12+81del | NP_001019241.1:n.*12+81del | |
| NM_001024071.2:c.627-647del | NP_001019242.1:n.627-647del | |
| NM_001024024.2:c.*16+300del | NP_001019195.1:n.*16+300del |