Canonical Allele Identifier: CA749456696
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs1478514363
gnomAD v3: 21-41756865-AAACATGG-A
gnomAD v4: 21-41756865-AAACATGG-A
MyVariant Identifiers: chr21:g.43177026_43177032del (hg19) chr21:g.41756866_41756872del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41756870_41756876del , CM000683.2:g.41756870_41756876del GRCh38
NC_000021.8:g.43177030_43177036del , CM000683.1:g.43177030_43177036del GRCh37
NC_000021.7:g.42050099_42050105del NCBI36
NG_032113.1:g.15218_15224del
NG_032113.2:g.15218_15224del

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.183-56_183-50del MANE Select ENSP00000332454.3:n.183-56_183-50del
ENST00000332512.7:c.183-56_183-50del ENSP00000332454.3:n.183-56_183-50del
ENST00000352483.3:c.183-56_183-50del ENSP00000330161.2:n.183-56_183-50del
NM_020639.2:c.183-56_183-50del NP_065690.2:n.183-56_183-50del
NM_020639.3:c.183-56_183-50del MANE Select NP_065690.2:n.183-56_183-50del
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