Canonical Allele Identifier: CA638057720
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs1288452710
gnomAD v2: 21-43177090-GCACACACATGGGGCACA-G
gnomAD v3: 21-41756930-GCACACACATGGGGCACA-G
gnomAD v4: 21-41756930-GCACACACATGGGGCACA-G
MyVariant Identifiers: chr21:g.43177091_43177107del (hg19) chr21:g.41756931_41756947del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41756932_41756948del , CM000683.2:g.41756932_41756948del GRCh38
NC_000021.8:g.43177092_43177108del , CM000683.1:g.43177092_43177108del GRCh37
NC_000021.7:g.42050161_42050177del NCBI36
NG_032113.1:g.15143_15159del
NG_032113.2:g.15143_15159del

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.183-131_183-115del MANE Select ENSP00000332454.3:n.183-131_183-115del
ENST00000332512.7:c.183-131_183-115del ENSP00000332454.3:n.183-131_183-115del
ENST00000352483.3:c.183-131_183-115del ENSP00000330161.2:n.183-131_183-115del
NM_020639.2:c.183-131_183-115del NP_065690.2:n.183-131_183-115del
NM_020639.3:c.183-131_183-115del MANE Select NP_065690.2:n.183-131_183-115del
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