Canonical Allele Identifier: CA195087

Gene: CDK4

Linked Data

• ClinVar Variation Id: 186526
• ClinVar RCV Id: RCV000166135 ; RCV000817621
• dbSNP Id: rs786203016
• gnomAD v3: 12-57750967-CA-C
• gnomAD v4: 12-57750967-CA-C
• MyVariant Identifiers: chr12:g.58144751del (hg19) ; chr12:g.57750968del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750970del , CM000674.2:g.57750970del	GRCh38
NC_000012.11:g.58144753del , CM000674.1:g.58144753del	GRCh37
NC_000012.10:g.56431020del	NCBI36
NG_007484.2:g.6414del , LRG_490:g.6414del

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.477del MANE Select	ENSP00000257904.5:p.Phe159LeufsTer?
ENST00000257904.10:c.477del	ENSP00000257904.5:p.Phe159LeufsTer?
ENST00000312990.10:c.265-297del	ENSP00000316889.6:n.265-297del
ENST00000546489.5:c.255del	ENSP00000447779.1:p.Phe85LeufsTer?
ENST00000547281.5:c.255del	ENSP00000447274.1:p.Phe85LeufsTer?
ENST00000549606.5:c.-158+1207del	ENSP00000447005.1:n.-158+1207del
ENST00000550419.5:c.477del	ENSP00000448098.1:p.Phe159LeufsTer16
ENST00000551706.1:n.843del
ENST00000551800.5:c.255del	ENSP00000449391.1:p.Phe85LeufsTer?
ENST00000551888.5:n.443-297del
ENST00000552254.5:c.477del	ENSP00000449179.1:p.Phe159LeufsTer?
ENST00000552388.1:c.477del	ENSP00000448963.1:p.Phe159LeufsTer?
ENST00000553237.5:c.*116del	ENSP00000448885.1:n.*116del
NM_000075.3:c.477del	NP_000066.1:p.Phe159LeufsTer?
NM_000075.4:c.477del MANE Select	NP_000066.1:p.Phe159LeufsTer?