Canonical Allele Identifier: CA605327108

Gene: CDK4

Linked Data

• dbSNP Id: rs1380174646
• gnomAD v2: 12-58144443-GA-G
• MyVariant Identifiers: chr12:g.58144444del (hg19) ; chr12:g.57750661del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750661del , CM000674.2:g.57750661del	GRCh38
NC_000012.11:g.58144444del , CM000674.1:g.58144444del	GRCh37
NC_000012.10:g.56430711del	NCBI36
NG_007484.2:g.6721del , LRG_490:g.6721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.627del MANE Select	ENSP00000257904.5:p.Arg210GlufsTer20
ENST00000257904.10:c.627del	ENSP00000257904.5:p.Arg210GlufsTer20
ENST00000312990.10:c.275del	ENSP00000316889.6:p.Val92AlafsTer10
ENST00000546489.5:c.405del	ENSP00000447779.1:p.Arg136GlufsTer20
ENST00000547281.5:c.405del	ENSP00000447274.1:p.Arg136GlufsTer20
ENST00000549606.5:c.-157-1157del	ENSP00000447005.1:n.-157-1157del
ENST00000550419.5:c.523-98del	ENSP00000448098.1:n.523-98del
ENST00000551888.5:n.453del
ENST00000553237.5:c.*266del	ENSP00000448885.1:n.*266del
NM_000075.3:c.627del	NP_000066.1:p.Arg210GlufsTer20
NM_000075.4:c.627del MANE Select	NP_000066.1:p.Arg210GlufsTer20