Linked Data
ClinVar Variation Id:
362549
dbSNP Id:
rs773257848
ExAC:
8:22019315 AGAG / A
gnomAD v2:
8-22019315-AGAG-A
gnomAD v3:
8-22161802-AGAG-A
gnomAD v4:
8-22161802-AGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22161806_22161808del , CM000670.2:g.22161806_22161808del | GRCh38 |
| NC_000008.10:g.22019319_22019321del , CM000670.1:g.22019319_22019321del | GRCh37 |
| NC_000008.9:g.22075264_22075266del | NCBI36 |
| NG_016968.1:g.5136_5138del | |
| NG_029659.1:g.1667_1669del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679463.1:c.-23_-21del MANE Select | ENSP00000505152.1:n.-23_-21del | |
| ENST00000318561.7:c.-23_-21del | ENSP00000316152.3:n.-23_-21del | |
| ENST00000437090.6:c.-23_-21del | ENSP00000407931.2:n.-23_-21del | |
| ENST00000520605.5:c.-23_-21del | ENSP00000430266.1:n.-23_-21del | |
| ENST00000521315.5:c.-23_-21del | ENSP00000430410.1:n.-23_-21del | |
| ENST00000524318.3:n.770_772del | ||
| NM_001172357.1:c.-23_-21del | NP_001165828.1:n.-23_-21del | |
| NM_001172410.1:c.-23_-21del | NP_001165881.1:n.-23_-21del | |
| NM_003018.3:c.-23_-21del | NP_003009.2:n.-23_-21del | |
| XM_006716379.2:c.-23_-21del | XP_006716442.1:n.-23_-21del | |
| XM_006716380.2:c.-23_-21del | XP_006716443.1:n.-23_-21del | |
| XM_011544612.1:c.-23_-21del | XP_011542914.1:n.-23_-21del | |
| XM_011544613.1:c.-23_-21del | XP_011542915.1:n.-23_-21del | |
| NM_001317778.1:c.-23_-21del | NP_001304707.1:n.-23_-21del | |
| NM_001317779.1:c.-23_-21del | NP_001304708.1:n.-23_-21del | |
| NM_001317780.1:c.-23_-21del | NP_001304709.1:n.-23_-21del | |
| XM_011544613.3:c.-23_-21del | XP_011542915.1:n.-23_-21del | |
| NM_001172357.2:c.-23_-21del | NP_001165828.1:n.-23_-21del | |
| NM_001172410.2:c.-23_-21del | NP_001165881.1:n.-23_-21del | |
| NM_001317778.2:c.-23_-21del MANE Select | NP_001304707.1:n.-23_-21del | |
| NM_001317779.2:c.-23_-21del | NP_001304708.1:n.-23_-21del | |
| NM_001317780.2:c.-23_-21del | NP_001304709.1:n.-23_-21del | |
| NM_003018.4:c.-23_-21del | NP_003009.2:n.-23_-21del | |
| NM_001385653.1:c.-23_-21del | NP_001372582.1:n.-23_-21del | |
| NM_001385654.1:c.-23_-21del | NP_001372583.1:n.-23_-21del | |
| NM_001385655.1:c.-23_-21del | NP_001372584.1:n.-23_-21del | |
| NM_001385656.1:c.-23_-21del | NP_001372585.1:n.-23_-21del | |
| NM_001385657.1:c.-23_-21del | NP_001372586.1:n.-23_-21del | |
| NM_001385658.1:c.-23_-21del | NP_001372587.1:n.-23_-21del | |
| NM_001385659.1:c.-23_-21del | NP_001372588.1:n.-23_-21del | |
| NM_001385660.1:c.-23_-21del | NP_001372589.1:n.-23_-21del |