Linked Data
dbSNP Id:
rs71211518
gnomAD v3:
8-1858143-AGTCCCCAGGTGG-A
gnomAD v4:
8-1858143-AGTCCCCAGGTGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1858155_1858166del , CM000670.2:g.1858155_1858166del | GRCh38 |
| NC_000008.10:g.1806321_1806332del , CM000670.1:g.1806321_1806332del | GRCh37 |
| NC_000008.9:g.1793728_1793739del | NCBI36 |
| NG_008480.1:g.39173_39184del , LRG_234:g.39173_39184del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349830.8:c.193+40_193+51del MANE Select | ENSP00000340297.3:n.193+40_193+51del | |
| ENST00000635773.1:c.652+40_652+51del | ||
| ENST00000635855.1:c.*144+40_*144+51del | ENSP00000489726.1:n.*144+40_*144+51del | |
| ENST00000636175.1:c.583+40_583+51del | ||
| ENST00000349830.7:c.193+40_193+51del | ENSP00000340297.3:n.193+40_193+51del | |
| ENST00000398564.5:c.265+40_265+51del | ENSP00000381571.1:n.265+40_265+51del | |
| ENST00000518288.5:c.265+40_265+51del | ENSP00000431012.1:n.265+40_265+51del | |
| ENST00000520359.5:c.193+40_193+51del | ENSP00000427909.1:n.193+40_193+51del | |
| NM_001308152.1:c.193+40_193+51del | NP_001295081.1:n.193+40_193+51del | |
| NM_001308153.1:c.265+40_265+51del | NP_001295082.1:n.265+40_265+51del | |
| NM_014629.2:c.193+40_193+51del , LRG_234t1:c.193+40_193+51del | NP_055444.2:n.193+40_193+51del | |
| NM_014629.3:c.193+40_193+51del | NP_055444.2:n.193+40_193+51del | |
| XM_005266041.2:c.193+40_193+51del | XP_005266098.1:n.193+40_193+51del | |
| XM_011534766.1:c.193+40_193+51del | XP_011533068.1:n.193+40_193+51del | |
| XM_011534767.1:c.193+40_193+51del | XP_011533069.1:n.193+40_193+51del | |
| XM_011534768.1:c.193+40_193+51del | XP_011533070.1:n.193+40_193+51del | |
| XM_011534769.1:c.148+40_148+51del | XP_011533071.1:n.148+40_148+51del | |
| XM_011534770.1:c.193+40_193+51del | XP_011533072.1:n.193+40_193+51del | |
| XM_005266041.4:c.193+40_193+51del | XP_005266098.1:n.193+40_193+51del | |
| XM_011534767.2:c.193+40_193+51del | XP_011533069.1:n.193+40_193+51del | |
| XM_011534770.2:c.193+40_193+51del | XP_011533072.1:n.193+40_193+51del | |
| XM_017014003.1:c.265+40_265+51del | XP_016869492.1:n.265+40_265+51del | |
| XM_024447334.1:c.193+40_193+51del | XP_024303102.1:n.193+40_193+51del | |
| XM_024447335.1:c.277+40_277+51del | XP_024303103.1:n.277+40_277+51del | |
| NM_014629.4:c.193+40_193+51del MANE Select | NP_055444.2:n.193+40_193+51del | |
| NM_001308152.2:c.193+40_193+51del | NP_001295081.1:n.193+40_193+51del | |
| NM_001308153.2:c.265+40_265+51del | NP_001295082.1:n.265+40_265+51del |