Canonical Allele Identifier: CA2619494696

Gene: CDK4

Linked Data

• gnomAD v4: 12-57750704-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750705dup , CM000674.2:g.57750705dup	GRCh38
NC_000012.11:g.58144488dup , CM000674.1:g.58144488dup	GRCh37
NC_000012.10:g.56430755dup	NCBI36
NG_007484.2:g.6677dup , LRG_490:g.6677dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.583dup MANE Select	ENSP00000257904.5:p.Val195GlyfsTer25
ENST00000257904.10:c.583dup	ENSP00000257904.5:p.Val195GlyfsTer25
ENST00000312990.10:c.265-34dup	ENSP00000316889.6:n.265-34dup
ENST00000546489.5:c.361dup	ENSP00000447779.1:p.Val121GlyfsTer25
ENST00000547281.5:c.361dup	ENSP00000447274.1:p.Val121GlyfsTer25
ENST00000549606.5:c.-157-1201dup	ENSP00000447005.1:n.-157-1201dup
ENST00000550419.5:c.523-142dup	ENSP00000448098.1:n.523-142dup
ENST00000551800.5:c.361dup	ENSP00000449391.1:p.Val121GlyfsTer?
ENST00000551888.5:n.443-34dup
ENST00000552254.5:c.583dup	ENSP00000449179.1:p.Val195GlyfsTer?
ENST00000553237.5:c.*222dup	ENSP00000448885.1:n.*222dup
NM_000075.3:c.583dup	NP_000066.1:p.Val195GlyfsTer25
NM_000075.4:c.583dup MANE Select	NP_000066.1:p.Val195GlyfsTer25