Canonical Allele Identifier: CA6657859

Gene: CDK4

Linked Data

• ClinVar Variation Id: 2700265
• ClinVar RCV Id: RCV003585474
• dbSNP Id: rs769836783
• ExAC: 12:58145139 A / AT
• MyVariant Identifiers: chr12:g.58145139_58145140insT (hg19) ; chr12:g.57751356_57751357insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57751357dup , CM000674.2:g.57751357dup	GRCh38
NC_000012.11:g.58145140dup , CM000674.1:g.58145140dup	GRCh37
NC_000012.10:g.56431407dup	NCBI36
NG_007484.2:g.6025dup , LRG_490:g.6025dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.219-15dup MANE Select	ENSP00000257904.5:n.219-15dup
ENST00000257904.10:c.219-15dup	ENSP00000257904.5:n.219-15dup
ENST00000312990.10:c.219-15dup	ENSP00000316889.6:n.219-15dup
ENST00000546489.5:c.-4-15dup	ENSP00000447779.1:n.-4-15dup
ENST00000547281.5:c.-4-15dup	ENSP00000447274.1:n.-4-15dup
ENST00000549606.5:c.-158+818dup	ENSP00000447005.1:n.-158+818dup
ENST00000550419.5:c.219-15dup	ENSP00000448098.1:n.219-15dup
ENST00000551706.1:n.570dup
ENST00000551800.5:c.-4-15dup	ENSP00000449391.1:n.-4-15dup
ENST00000551888.5:n.397-15dup
ENST00000552254.5:c.219-15dup	ENSP00000449179.1:n.219-15dup
ENST00000552388.1:c.219-15dup	ENSP00000448963.1:n.219-15dup
ENST00000552862.1:c.219-15dup	ENSP00000446763.1:n.219-15dup
ENST00000553237.5:c.218+143dup	ENSP00000448885.1:n.218+143dup
NM_000075.3:c.219-15dup	NP_000066.1:n.219-15dup
NM_000075.4:c.219-15dup MANE Select	NP_000066.1:n.219-15dup