Canonical Allele Identifier: CA2580616825

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1472644
• ClinVar RCV Id: RCV002005059
• dbSNP Id: rs2140385796

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750732_57750734del , CM000674.2:g.57750732_57750734del	GRCh38
NC_000012.11:g.58144515_58144517del , CM000674.1:g.58144515_58144517del	GRCh37
NC_000012.10:g.56430782_56430784del	NCBI36
NG_007484.2:g.6652_6654del , LRG_490:g.6652_6654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.558_560del MANE Select	ENSP00000257904.5:p.Leu187del
ENST00000257904.10:c.558_560del	ENSP00000257904.5:p.Leu187del
ENST00000312990.10:c.265-59_265-57del	ENSP00000316889.6:n.265-59_265-57del
ENST00000546489.5:c.336_338del	ENSP00000447779.1:p.Leu113del
ENST00000547281.5:c.336_338del	ENSP00000447274.1:p.Leu113del
ENST00000549606.5:c.-157-1226_-157-1224del	ENSP00000447005.1:n.-157-1226_-157-1224del
ENST00000550419.5:c.523-167_523-165del	ENSP00000448098.1:n.523-167_523-165del
ENST00000551800.5:c.336_338del	ENSP00000449391.1:p.Leu113del
ENST00000551888.5:n.443-59_443-57del
ENST00000552254.5:c.558_560del	ENSP00000449179.1:p.Leu187del
ENST00000553237.5:c.*197_*199del	ENSP00000448885.1:n.*197_*199del
NM_000075.3:c.558_560del	NP_000066.1:p.Leu187del
NM_000075.4:c.558_560del MANE Select	NP_000066.1:p.Leu187del