Linked Data
ClinVar Variation Id:
370515
dbSNP Id:
rs1057516550
gnomAD v2:
15-75185144-GT-G
gnomAD v3:
15-74892803-GT-G
gnomAD v4:
15-74892803-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74892804del , CM000677.2:g.74892804del | GRCh38 |
| NC_000015.9:g.75185145del , CM000677.1:g.75185145del | GRCh37 |
| NC_000015.8:g.72972198del | NCBI36 |
| NG_008921.1:g.7736del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352410.9:c.487+2del MANE Select | ENSP00000318318.6:n.487+2del | |
| ENST00000323744.10:c.487+2del | ENSP00000318192.6:n.487+2del | |
| ENST00000352410.8:c.487+2del | ENSP00000318318.6:n.487+2del | |
| ENST00000535694.5:c.337+2del | ENSP00000440447.1:n.337+2del | |
| ENST00000561470.5:c.*383+2del | ENSP00000454267.1:n.*383+2del | |
| ENST00000562606.5:c.427+2del | ENSP00000457020.1:n.427+2del | |
| ENST00000562800.5:c.255+1315del | ENSP00000457619.1:n.255+1315del | |
| ENST00000563422.5:c.487+2del | ENSP00000457885.1:n.487+2del | |
| ENST00000563786.5:c.427+2del | ENSP00000455241.1:n.427+2del | |
| ENST00000564003.5:c.337+2del | ENSP00000454312.1:n.337+2del | |
| ENST00000564633.5:c.427+2del | ENSP00000455383.1:n.427+2del | |
| ENST00000565576.5:c.487+2del | ENSP00000454619.1:n.487+2del | |
| ENST00000566377.5:c.487+2del | ENSP00000455405.1:n.487+2del | |
| ENST00000567116.5:n.520del | ||
| ENST00000567132.5:c.445+2del | ENSP00000455972.1:n.445+2del | |
| ENST00000567177.1:c.448+2del | ENSP00000457013.1:n.448+2del | |
| ENST00000568828.5:c.451+2del | ENSP00000455065.1:n.451+2del | |
| ENST00000568840.1:n.598del | ||
| ENST00000568907.5:c.397+2del | ENSP00000457494.1:n.397+2del | |
| ENST00000569931.5:c.427+2del | ENSP00000455161.1:n.427+2del | |
| NM_001289155.1:c.487+2del | NP_001276084.1:n.487+2del | |
| NM_001289156.1:c.337+2del | NP_001276085.1:n.337+2del | |
| NM_001289157.1:c.487+2del | NP_001276086.1:n.487+2del | |
| NM_002435.2:c.487+2del | NP_002426.1:n.487+2del | |
| XM_011521592.1:c.475+2del | XP_011519894.1:n.475+2del | |
| XM_011521593.1:c.427+2del | XP_011519895.1:n.427+2del | |
| NM_001330372.1:c.427+2del | NP_001317301.1:n.427+2del | |
| XM_017022208.1:c.427+2del | XP_016877697.1:n.427+2del | |
| XM_017022209.2:c.337+2del | XP_016877698.1:n.337+2del | |
| NM_002435.3:c.487+2del MANE Select | NP_002426.1:n.487+2del | |
| NM_001289155.2:c.487+2del | NP_001276084.1:n.487+2del | |
| NM_001289156.2:c.337+2del | NP_001276085.1:n.337+2del | |
| NM_001289157.2:c.487+2del | NP_001276086.1:n.487+2del | |
| NM_001330372.2:c.427+2del | NP_001317301.1:n.427+2del |