Canonical Allele Identifier: CA2619494639

Gene: CDK4

Linked Data

• gnomAD v4: 12-57750663-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750666del , CM000674.2:g.57750666del	GRCh38
NC_000012.11:g.58144449del , CM000674.1:g.58144449del	GRCh37
NC_000012.10:g.56430716del	NCBI36
NG_007484.2:g.6718del , LRG_490:g.6718del

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.624del MANE Select	ENSP00000257904.5:p.Arg209ValfsTer21
ENST00000257904.10:c.624del	ENSP00000257904.5:p.Arg209ValfsTer21
ENST00000312990.10:c.272del	ENSP00000316889.6:p.Phe91SerfsTer11
ENST00000546489.5:c.402del	ENSP00000447779.1:p.Arg135ValfsTer21
ENST00000547281.5:c.402del	ENSP00000447274.1:p.Arg135ValfsTer21
ENST00000549606.5:c.-157-1160del	ENSP00000447005.1:n.-157-1160del
ENST00000550419.5:c.523-101del	ENSP00000448098.1:n.523-101del
ENST00000551888.5:n.450del
ENST00000553237.5:c.*263del	ENSP00000448885.1:n.*263del
NM_000075.3:c.624del	NP_000066.1:p.Arg209ValfsTer21
NM_000075.4:c.624del MANE Select	NP_000066.1:p.Arg209ValfsTer21