Linked Data
ClinVar Variation Id:
204218
ClinVar RCV Id:
RCV000186425
dbSNP Id:
rs35891798
ExAC:
9:37422880 CG / C
gnomAD v2:
9-37422880-CG-C
gnomAD v3:
9-37422883-CG-C
gnomAD v4:
9-37422883-CG-C
MyVariant Identifiers:
chr9:g.37422881del (hg19)
chr9:g.37422885del (hg38)
chr9:g.37422884del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37422885del , CM000671.2:g.37422885del | GRCh38 |
| NC_000009.11:g.37422882del , CM000671.1:g.37422882del | GRCh37 |
| NC_000009.10:g.37412882del | NCBI36 |
| NG_008135.1:g.5176del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.83+52del MANE Select | ENSP00000313432.6:n.83+52del | |
| ENST00000318158.10:c.83+52del | ENSP00000313432.6:n.83+52del | |
| ENST00000377824.8:n.120+52del | ||
| ENST00000460882.5:n.110+80del | ||
| ENST00000487399.5:n.92+80del | ||
| ENST00000491488.5:n.109+52del | ||
| ENST00000493368.5:n.140+80del | ||
| ENST00000607784.1:c.83+52del | ENSP00000475569.1:n.83+52del | |
| NM_012203.1:c.83+52del | NP_036335.1:n.83+52del | |
| XM_005251631.1:c.83+52del | XP_005251688.1:n.83+52del | |
| XM_011518073.1:c.-680+52del | XP_011516375.1:n.-680+52del | |
| XR_929374.1:n.168+52del | ||
| XM_017015320.2:c.83+52del | XP_016870809.1:n.83+52del | |
| XM_017015321.2:c.83+52del | XP_016870810.1:n.83+52del | |
| XM_017015323.2:c.-680+52del | XP_016870812.1:n.-680+52del | |
| XM_024447716.1:c.356+80del | XP_024303484.1:n.356+80del | |
| XM_024447717.1:c.356+80del | XP_024303485.1:n.356+80del | |
| XR_002956828.1:n.371+80del | ||
| XR_002956829.1:n.371+80del | ||
| XR_002956830.1:n.142+52del | ||
| XR_002956831.1:n.138+52del | ||
| XR_002956832.1:n.142+52del | ||
| NM_012203.2:c.83+52del MANE Select | NP_036335.1:n.83+52del |