Canonical Allele Identifier: CA10035124
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs762052035
ExAC: 21:43161222 C / CA
gnomAD v2: 21-43161222-C-CA
gnomAD v4: 21-41741062-C-CA
MyVariant Identifiers: chr21:g.43161222_43161223insA (hg19) chr21:g.41741062_41741063insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41741063dup , CM000683.2:g.41741063dup GRCh38
NC_000021.8:g.43161223dup , CM000683.1:g.43161223dup GRCh37
NC_000021.7:g.42034292dup NCBI36
NG_032113.1:g.31027dup
NG_032113.2:g.31027dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.2130dup MANE Select ENSP00000332454.3:p.Ala711CysfsTer19
ENST00000332512.7:c.2130dup ENSP00000332454.3:p.Ala711CysfsTer19
ENST00000352483.3:c.2274dup ENSP00000330161.2:p.Ala759CysfsTer19
NM_020639.2:c.2130dup NP_065690.2:p.Ala711CysfsTer19
NM_020639.3:c.2130dup MANE Select NP_065690.2:p.Ala711CysfsTer19
Search 100 bp 5'
Search 100 bp 3'