Linked Data
ClinVar Variation Id:
204230
ClinVar RCV Id:
RCV000186437
dbSNP Id:
rs796052077
MyVariant Identifiers:
chr9:g.37422744_37422745delinsAT (hg19)
chr9:g.37422747_37422748delinsAT (hg38)
PubMed:
PMID:25410531
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37422747_37422748delinsAT , CM000671.2:g.37422747_37422748delinsAT | GRCh38 |
| NC_000009.11:g.37422744_37422745delinsAT , CM000671.1:g.37422744_37422745delinsAT | GRCh37 |
| NC_000009.10:g.37412744_37412745delinsAT | NCBI36 |
| NG_008135.1:g.5038_5039delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.-4_-3delinsAT MANE Select | ENSP00000313432.6:n.-4_-3delinsAT | |
| ENST00000318158.10:c.-4_-3delinsAT | ENSP00000313432.6:n.-4_-3delinsAT | |
| ENST00000377824.8:n.34_35delinsAT | ||
| ENST00000460882.5:n.52_53delinsAT | ||
| ENST00000487399.5:n.34_35delinsAT | ||
| ENST00000491488.5:n.23_24delinsAT | ||
| ENST00000493368.5:n.82_83delinsAT | ||
| ENST00000607784.1:c.-4_-3delinsAT | ENSP00000475569.1:n.-4_-3delinsAT | |
| NM_012203.1:c.-4_-3delinsAT | NP_036335.1:n.-4_-3delinsAT | |
| XM_005251631.1:c.-4_-3delinsAT | XP_005251688.1:n.-4_-3delinsAT | |
| XM_011518073.1:c.-766_-765delinsAT | XP_011516375.1:n.-766_-765delinsAT | |
| XR_929374.1:n.82_83delinsAT | ||
| XM_017015320.2:c.-4_-3delinsAT | XP_016870809.1:n.-4_-3delinsAT | |
| XM_017015321.2:c.-4_-3delinsAT | XP_016870810.1:n.-4_-3delinsAT | |
| XM_017015323.2:c.-766_-765delinsAT | XP_016870812.1:n.-766_-765delinsAT | |
| XM_024447716.1:c.298_299delinsAT | XP_024303484.1:p.Ala100Met | |
| XM_024447717.1:c.298_299delinsAT | XP_024303485.1:p.Ala100Met | |
| XR_002956828.1:n.313_314delinsAT | ||
| XR_002956829.1:n.313_314delinsAT | ||
| XR_002956830.1:n.56_57delinsAT | ||
| XR_002956831.1:n.52_53delinsAT | ||
| XR_002956832.1:n.56_57delinsAT | ||
| NM_012203.2:c.-4_-3delinsAT MANE Select | NP_036335.1:n.-4_-3delinsAT |