Linked Data
dbSNP Id:
rs1368738368
gnomAD v2:
1-40539669-CTG-C
gnomAD v3:
1-40073997-CTG-C
gnomAD v4:
1-40073997-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40073999_40074000del , CM000663.2:g.40073999_40074000del | GRCh38 |
| NC_000001.10:g.40539671_40539672del , CM000663.1:g.40539671_40539672del | GRCh37 |
| NC_000001.9:g.40312258_40312259del | NCBI36 |
| NG_009192.1:g.28472_28473del , LRG_690:g.28472_28473del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.*62_*63del | ENSP00000394863.4:n.*62_*63del | |
| ENST00000439754.6:c.*62_*63del | ENSP00000403207.2:n.*62_*63del | |
| ENST00000449045.7:c.*62_*63del | ENSP00000392293.2:n.*62_*63del | |
| ENST00000530076.6:c.*62_*63del | ENSP00000434007.1:n.*62_*63del | |
| ENST00000530704.6:c.*606_*607del | ENSP00000431655.1:n.*606_*607del | |
| ENST00000641083.1:c.1073_1074del | ||
| ENST00000641236.1:n.1220_1221del | ||
| ENST00000641319.1:c.*193_*194del | ENSP00000493128.1:n.*193_*194del | |
| ENST00000641381.1:c.405_406del | ||
| ENST00000641471.1:c.*62_*63del | ENSP00000493146.1:n.*62_*63del | |
| ENST00000641691.1:c.*835_*836del | ENSP00000492910.1:n.*835_*836del | |
| ENST00000642050.2:c.*62_*63del MANE Select | ENSP00000493153.1:n.*62_*63del | |
| ENST00000372775.2:n.380_381del | ||
| ENST00000433473.7:c.*62_*63del | ENSP00000394863.3:n.*62_*63del | |
| ENST00000439754.5:c.596_597del | ENSP00000403207.1:n.596_597del | |
| ENST00000449045.6:c.*62_*63del | ENSP00000392293.2:n.*62_*63del | |
| ENST00000529905.5:c.*62_*63del | ENSP00000432053.1:n.*62_*63del | |
| ENST00000530704.5:c.*606_*607del | ENSP00000431655.1:n.*606_*607del | |
| NM_000310.3:c.*62_*63del , LRG_690t1:c.*62_*63del | NP_000301.1:n.*62_*63del | |
| NM_001142604.1:c.*62_*63del | NP_001136076.1:n.*62_*63del | |
| XM_005271008.1:c.*62_*63del | XP_005271065.1:n.*62_*63del | |
| NM_001363695.1:c.*62_*63del | NP_001350624.1:n.*62_*63del | |
| NM_000310.4:c.*62_*63del MANE Select | NP_000301.1:n.*62_*63del | |
| NM_001142604.2:c.*62_*63del | NP_001136076.1:n.*62_*63del | |
| NM_001363695.2:c.*62_*63del | NP_001350624.1:n.*62_*63del |