Linked Data
dbSNP Id:
rs1649629828
gnomAD v3:
1-40092548-ATATTGTT-A
gnomAD v4:
1-40092548-ATATTGTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092558_40092564del , CM000663.2:g.40092558_40092564del | GRCh38 |
| NC_000001.10:g.40558230_40558236del , CM000663.1:g.40558230_40558236del | GRCh37 |
| NC_000001.9:g.40330817_40330823del | NCBI36 |
| NG_009192.1:g.9916_9922del , LRG_690:g.9916_9922del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.129-48_129-42del | ENSP00000361865.5:n.129-48_129-42del | |
| ENST00000433473.8:c.125-51_125-45del | ENSP00000394863.4:n.125-51_125-45del | |
| ENST00000439754.6:c.125-48_125-42del | ENSP00000403207.2:n.125-48_125-42del | |
| ENST00000449045.7:c.125-3043_125-3037del | ENSP00000392293.2:n.125-3043_125-3037del | |
| ENST00000526547.2:c.405-48_405-42del | ||
| ENST00000527311.7:c.125-48_125-42del | ENSP00000436695.3:n.125-48_125-42del | |
| ENST00000530704.6:c.125-48_125-42del | ENSP00000431655.1:n.125-48_125-42del | |
| ENST00000641083.1:c.103-48_103-42del | ||
| ENST00000641236.1:n.137-48_137-42del | ||
| ENST00000641319.1:c.125-48_125-42del | ENSP00000493128.1:n.125-48_125-42del | |
| ENST00000641471.1:c.212-48_212-42del | ENSP00000493146.1:n.212-48_212-42del | |
| ENST00000641548.1:c.125-55_125-49del | ENSP00000492984.1:n.125-55_125-49del | |
| ENST00000641691.1:c.125-55_125-49del | ENSP00000492910.1:n.125-55_125-49del | |
| ENST00000641924.1:c.124+4560_124+4566del | ENSP00000493063.1:n.124+4560_124+4566del | |
| ENST00000642050.2:c.125-48_125-42del MANE Select | ENSP00000493153.1:n.125-48_125-42del | |
| ENST00000372779.8:c.212-48_212-42del | ENSP00000361865.4:n.212-48_212-42del | |
| ENST00000433473.7:c.125-48_125-42del | ENSP00000394863.3:n.125-48_125-42del | |
| ENST00000449045.6:c.125-3043_125-3037del | ENSP00000392293.2:n.125-3043_125-3037del | |
| ENST00000526547.1:c.-26-48_-26-42del | ENSP00000436481.1:n.-26-48_-26-42del | |
| ENST00000527311.6:c.125-498_125-492del | ENSP00000436695.2:n.125-498_125-492del | |
| ENST00000529905.5:c.125-48_125-42del | ENSP00000432053.1:n.125-48_125-42del | |
| ENST00000530704.5:c.125-48_125-42del | ENSP00000431655.1:n.125-48_125-42del | |
| NM_000310.3:c.125-48_125-42del , LRG_690t1:c.125-48_125-42del | NP_000301.1:n.125-48_125-42del | |
| NM_001142604.1:c.125-3043_125-3037del | NP_001136076.1:n.125-3043_125-3037del | |
| XM_005271008.1:c.125-48_125-42del | XP_005271065.1:n.125-48_125-42del | |
| NM_001363695.1:c.125-48_125-42del | NP_001350624.1:n.125-48_125-42del | |
| NM_000310.4:c.125-48_125-42del MANE Select | NP_000301.1:n.125-48_125-42del | |
| NM_001142604.2:c.125-3043_125-3037del | NP_001136076.1:n.125-3043_125-3037del | |
| NM_001363695.2:c.125-48_125-42del | NP_001350624.1:n.125-48_125-42del |