Linked Data
ClinVar Variation Id:
1249869
ClinVar RCV Id:
RCV001650005
dbSNP Id:
rs879204348
gnomAD v2:
8-1806041-GATCGATCT-G
gnomAD v3:
8-1857875-GATCGATCT-G
gnomAD v4:
8-1857875-GATCGATCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1857879_1857886del , CM000670.2:g.1857879_1857886del | GRCh38 |
| NC_000008.10:g.1806045_1806052del , CM000670.1:g.1806045_1806052del | GRCh37 |
| NC_000008.9:g.1793452_1793459del | NCBI36 |
| NG_008480.1:g.38897_38904del , LRG_234:g.38897_38904del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349830.8:c.38-81_38-74del MANE Select | ENSP00000340297.3:n.38-81_38-74del | |
| ENST00000635773.1:c.497-81_497-74del | ||
| ENST00000635855.1:c.628-81_628-74del | ENSP00000489726.1:n.628-81_628-74del | |
| ENST00000636175.1:c.428-81_428-74del | ||
| ENST00000349830.7:c.38-81_38-74del | ENSP00000340297.3:n.38-81_38-74del | |
| ENST00000398564.5:c.110-81_110-74del | ENSP00000381571.1:n.110-81_110-74del | |
| ENST00000518288.5:c.110-81_110-74del | ENSP00000431012.1:n.110-81_110-74del | |
| ENST00000520359.5:c.38-81_38-74del | ENSP00000427909.1:n.38-81_38-74del | |
| NM_001308152.1:c.38-81_38-74del | NP_001295081.1:n.38-81_38-74del | |
| NM_001308153.1:c.110-81_110-74del | NP_001295082.1:n.110-81_110-74del | |
| NM_014629.2:c.38-81_38-74del , LRG_234t1:c.38-81_38-74del | NP_055444.2:n.38-81_38-74del | |
| NM_014629.3:c.38-81_38-74del | NP_055444.2:n.38-81_38-74del | |
| XM_005266041.2:c.38-81_38-74del | XP_005266098.1:n.38-81_38-74del | |
| XM_011534766.1:c.38-81_38-74del | XP_011533068.1:n.38-81_38-74del | |
| XM_011534767.1:c.38-81_38-74del | XP_011533069.1:n.38-81_38-74del | |
| XM_011534768.1:c.38-81_38-74del | XP_011533070.1:n.38-81_38-74del | |
| XM_011534769.1:c.-8-81_-8-74del | XP_011533071.1:n.-8-81_-8-74del | |
| XM_011534770.1:c.38-81_38-74del | XP_011533072.1:n.38-81_38-74del | |
| XM_005266041.4:c.38-81_38-74del | XP_005266098.1:n.38-81_38-74del | |
| XM_011534767.2:c.38-81_38-74del | XP_011533069.1:n.38-81_38-74del | |
| XM_011534770.2:c.38-81_38-74del | XP_011533072.1:n.38-81_38-74del | |
| XM_017014003.1:c.110-81_110-74del | XP_016869492.1:n.110-81_110-74del | |
| XM_024447334.1:c.38-81_38-74del | XP_024303102.1:n.38-81_38-74del | |
| XM_024447335.1:c.122-81_122-74del | XP_024303103.1:n.122-81_122-74del | |
| NM_014629.4:c.38-81_38-74del MANE Select | NP_055444.2:n.38-81_38-74del | |
| NM_001308152.2:c.38-81_38-74del | NP_001295081.1:n.38-81_38-74del | |
| NM_001308153.2:c.110-81_110-74del | NP_001295082.1:n.110-81_110-74del |