Canonical Allele Identifier: CA10035833

Gene: RIPK4

Linked Data

• dbSNP Id: rs757188281
• ExAC: 21:43177015 ACT / A
• gnomAD v2: 21-43177015-ACT-A
• gnomAD v4: 21-41756855-ACT-A
• MyVariant Identifiers: chr21:g.43177016_43177017del (hg19) ; chr21:g.41756856_41756857del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.41756857_41756858del , CM000683.2:g.41756857_41756858del	GRCh38
NC_000021.8:g.43177017_43177018del , CM000683.1:g.43177017_43177018del	GRCh37
NC_000021.7:g.42050086_42050087del	NCBI36
NG_032113.1:g.15233_15234del
NG_032113.2:g.15233_15234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332512.8:c.183-41_183-40del MANE Select	ENSP00000332454.3:n.183-41_183-40del
ENST00000332512.7:c.183-41_183-40del	ENSP00000332454.3:n.183-41_183-40del
ENST00000352483.3:c.183-41_183-40del	ENSP00000330161.2:n.183-41_183-40del
NM_020639.2:c.183-41_183-40del	NP_065690.2:n.183-41_183-40del
NM_020639.3:c.183-41_183-40del MANE Select	NP_065690.2:n.183-41_183-40del