Canonical Allele Identifier: CA10633348

Gene: CDK4 TSPAN31

Linked Data

• ClinVar Variation Id: 309963
• ClinVar RCV Id: RCV000399758
• dbSNP Id: rs146863045
• gnomAD v2: 12-58141530-C-CT
• gnomAD v3: 12-57747747-C-CT
• gnomAD v4: 12-57747747-C-CT
• MyVariant Identifiers: chr12:g.58141531dupT (hg19) ; chr12:g.58141533_58141534insT (hg19) ; chr12:g.58141530_58141531insT (hg19) ; chr12:g.57747748dupT (hg38) ; chr12:g.57747750_57747751insT (hg38) ; chr12:g.57747747_57747748insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57747760dup , CM000674.2:g.57747760dup	GRCh38
NC_000012.11:g.58141543dup , CM000674.1:g.58141543dup	GRCh37
NC_000012.10:g.56427810dup	NCBI36
NG_007484.2:g.9634dup , LRG_490:g.9634dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.*777dup (CDK4) MANE Select	ENSP00000257904.5:n.*777dup
ENST00000257910.8:c.*470dup (TSPAN31) MANE Select	ENSP00000257910.3:n.*470dup
ENST00000257904.10:c.*777dup (CDK4)	ENSP00000257904.5:n.*777dup
ENST00000257910.7:c.*470dup (TSPAN31)	ENSP00000257910.3:n.*470dup
ENST00000312990.10:c.*1001dup (CDK4)	ENSP00000316889.6:n.*1001dup
ENST00000546922.1:n.797dup (TSPAN31)
ENST00000546993.5:n.1581dup (TSPAN31)
ENST00000547992.5:c.*470dup (TSPAN31)	ENSP00000448209.1:n.*470dup
ENST00000550791.1:n.1660dup (TSPAN31)
NM_000075.3:c.*777dup (CDK4)	NP_000066.1:n.*777dup
NM_005981.3:c.*470dup (TSPAN31)	NP_005972.1:n.*470dup
XM_005269074.2:c.*470dup (TSPAN31)	XP_005269131.2:n.*470dup
NM_001330168.1:c.*470dup (TSPAN31)	NP_001317097.1:n.*470dup
NM_001330169.1:c.*470dup (TSPAN31)	NP_001317098.1:n.*470dup
NM_005981.4:c.*470dup (TSPAN31)	NP_005972.1:n.*470dup
XM_024449123.1:c.*470dup (TSPAN31)	XP_024304891.1:n.*470dup
NM_000075.4:c.*777dup (CDK4) MANE Select	NP_000066.1:n.*777dup
NM_005981.5:c.*470dup (TSPAN31) MANE Select	NP_005972.1:n.*470dup
NM_001330168.2:c.*470dup (TSPAN31)	NP_001317097.1:n.*470dup
NM_001330169.2:c.*470dup (TSPAN31)	NP_001317098.1:n.*470dup