Linked Data
ClinVar Variation Id:
221292
dbSNP Id:
rs869025283
gnomAD v2:
6-105192055-GAGA-G
gnomAD v3:
6-104744180-GAGA-G
gnomAD v4:
6-104744180-GAGA-G
PubMed:
PMID:26437029
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.104744185_104744187del , CM000668.2:g.104744185_104744187del | GRCh38 |
| NC_000006.11:g.105192060_105192062del , CM000668.1:g.105192060_105192062del | GRCh37 |
| NC_000006.10:g.105298753_105298755del | NCBI36 |
| NG_046782.1:g.120737_120739del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262903.9:c.2490_2492del MANE Select | ENSP00000262903.4:p.Leu831del | |
| ENST00000262903.8:c.2490_2492del | ENSP00000262903.4:p.Leu831del | |
| ENST00000369125.6:c.1845_1847del | ENSP00000358121.2:p.Leu616del | |
| ENST00000369127.8:n.3511_3513del | ||
| ENST00000416605.6:c.*2152_*2154del | ENSP00000392425.2:n.*2152_*2154del | |
| ENST00000517424.1:c.1282_1284del | ||
| ENST00000517995.5:n.1004_1006del | ||
| ENST00000518402.5:c.661_663del | ||
| ENST00000518503.5:c.758-10_758-8del | ||
| NM_020771.3:c.2490_2492del | NP_065822.2:p.Leu831del | |
| NR_104424.1:n.2966_2968del | ||
| XM_006715528.2:c.2388_2390del | XP_006715591.1:p.Leu797del | |
| XM_006715529.2:c.2358_2360del | XP_006715592.1:p.Leu787del | |
| XM_006715530.2:c.1986_1988del | XP_006715593.1:p.Leu663del | |
| XM_011535989.1:c.2004_2006del | XP_011534291.1:p.Leu669del | |
| XM_011535990.1:c.1986_1988del | XP_011534292.1:p.Leu663del | |
| XM_011535991.1:c.1908_1910del | XP_011534293.1:p.Leu637del | |
| XR_942529.1:n.2767_2769del | ||
| NM_001321080.1:c.2358_2360del | NP_001308009.1:p.Leu787del | |
| NM_001321083.1:c.2388_2390del | NP_001308012.1:p.Leu797del | |
| NM_001321084.1:c.1986_1988del | NP_001308013.1:p.Leu663del | |
| NM_001350554.1:c.2256_2258del | NP_001337483.1:p.Leu753del | |
| NM_001350555.1:c.2199_2201del | NP_001337484.1:p.Leu734del | |
| NM_001350556.1:c.2004_2006del | NP_001337485.1:p.Leu669del | |
| NM_001350557.1:c.1986_1988del | NP_001337486.1:p.Leu663del | |
| NM_001350558.1:c.1986_1988del | NP_001337487.1:p.Leu663del | |
| NM_001350559.1:c.1908_1910del | NP_001337488.1:p.Leu637del | |
| NM_001350560.1:c.1707_1709del | NP_001337489.1:p.Leu570del | |
| NR_146787.1:n.2595_2597del | ||
| NR_146788.1:n.2765_2767del | ||
| NR_146789.1:n.2754_2756del | ||
| NR_146790.1:n.2771_2773del | ||
| NR_146791.1:n.2872_2874del | ||
| NR_146792.1:n.2848_2850del | ||
| XM_017011114.2:c.2256_2258del | XP_016866603.1:p.Leu753del | |
| XM_017011119.2:c.1986_1988del | XP_016866608.1:p.Leu663del | |
| XM_017011122.1:c.1908_1910del | XP_016866611.1:p.Leu637del | |
| XR_001743536.1:n.2767_2769del | ||
| XR_001743538.1:n.2859_2861del | ||
| XR_942529.2:n.2767_2769del | ||
| NM_020771.4:c.2490_2492del MANE Select | NP_065822.2:p.Leu831del | |
| NM_001321080.2:c.2358_2360del | NP_001308009.1:p.Leu787del | |
| NM_001321083.2:c.2388_2390del | NP_001308012.1:p.Leu797del | |
| NM_001321084.2:c.1986_1988del | NP_001308013.1:p.Leu663del | |
| NM_001350554.2:c.2256_2258del | NP_001337483.1:p.Leu753del | |
| NM_001350555.2:c.2199_2201del | NP_001337484.1:p.Leu734del | |
| NM_001350556.2:c.2004_2006del | NP_001337485.1:p.Leu669del | |
| NM_001350557.2:c.1986_1988del | NP_001337486.1:p.Leu663del | |
| NM_001350558.2:c.1986_1988del | NP_001337487.1:p.Leu663del | |
| NM_001350559.2:c.1908_1910del | NP_001337488.1:p.Leu637del | |
| NM_001350560.2:c.1707_1709del | NP_001337489.1:p.Leu570del | |
| NR_104424.2:n.2966_2968del | ||
| NR_146787.2:n.2595_2597del | ||
| NR_146788.2:n.2765_2767del | ||
| NR_146789.2:n.2754_2756del | ||
| NR_146790.2:n.2771_2773del | ||
| NR_146791.2:n.2872_2874del | ||
| NR_146792.2:n.2848_2850del |