Linked Data
dbSNP Id:
rs749705881
ExAC:
9:37432115 TC / T
gnomAD v2:
9-37432115-TC-T
gnomAD v4:
9-37432118-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37432120del , CM000671.2:g.37432120del | GRCh38 |
| NC_000009.11:g.37432117del , CM000671.1:g.37432117del | GRCh37 |
| NC_000009.10:g.37422117del | NCBI36 |
| NG_008135.1:g.14411del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.847del MANE Select | ENSP00000313432.6:p.Leu283Ter | |
| ENST00000318158.10:c.847del | ENSP00000313432.6:p.Leu283Ter | |
| ENST00000460882.5:n.874del | ||
| ENST00000480596.5:n.1548del | ||
| ENST00000482603.1:n.300del | ||
| ENST00000491488.5:n.552del | ||
| ENST00000494290.1:c.*51+969del | ENSP00000432021.1:n.*51+969del | |
| ENST00000497693.1:n.4415del | ||
| ENST00000512404.2:n.34del | ||
| ENST00000607784.1:c.847del | ENSP00000475569.1:p.Leu283Ter | |
| NM_012203.1:c.847del | NP_036335.1:p.Leu283Ter | |
| XM_005251631.1:c.526del | XP_005251688.1:p.Leu176Ter | |
| XM_011518073.1:c.445del | XP_011516375.1:p.Leu149Ter | |
| XM_017015320.2:c.847del | XP_016870809.1:p.Leu283Ter | |
| XM_017015321.2:c.847del | XP_016870810.1:p.Leu283Ter | |
| XM_017015323.2:c.445del | XP_016870812.1:p.Leu149Ter | |
| XM_024447716.1:c.1120del | XP_024303484.1:p.Leu374Ter | |
| XM_024447717.1:c.1120del | XP_024303485.1:p.Leu374Ter | |
| XR_002956828.1:n.1135del | ||
| XR_002956829.1:n.1135del | ||
| XR_002956830.1:n.2267del | ||
| XR_002956831.1:n.1942del | ||
| XR_002956832.1:n.1266del | ||
| NM_012203.2:c.847del MANE Select | NP_036335.1:p.Leu283Ter |