Canonical Allele Identifier: CA2580086616

Gene: CDK4

Linked Data

• ClinVar Variation Id: 1746673
• ClinVar RCV Id: RCV002344562

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750759dup , CM000674.2:g.57750759dup	GRCh38
NC_000012.11:g.58144542dup , CM000674.1:g.58144542dup	GRCh37
NC_000012.10:g.56430809dup	NCBI36
NG_007484.2:g.6623dup , LRG_490:g.6623dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.529dup MANE Select	ENSP00000257904.5:p.Thr177AsnfsTer?
ENST00000257904.10:c.529dup	ENSP00000257904.5:p.Thr177AsnfsTer?
ENST00000312990.10:c.265-88dup	ENSP00000316889.6:n.265-88dup
ENST00000546489.5:c.307dup	ENSP00000447779.1:p.Thr103AsnfsTer?
ENST00000547281.5:c.307dup	ENSP00000447274.1:p.Thr103AsnfsTer?
ENST00000549606.5:c.-157-1255dup	ENSP00000447005.1:n.-157-1255dup
ENST00000550419.5:c.522+164dup	ENSP00000448098.1:n.522+164dup
ENST00000551800.5:c.307dup	ENSP00000449391.1:p.Thr103AsnfsTer?
ENST00000551888.5:n.443-88dup
ENST00000552254.5:c.529dup	ENSP00000449179.1:p.Thr177AsnfsTer?
ENST00000553237.5:c.*168dup	ENSP00000448885.1:n.*168dup
NM_000075.3:c.529dup	NP_000066.1:p.Thr177AsnfsTer?
NM_000075.4:c.529dup MANE Select	NP_000066.1:p.Thr177AsnfsTer?