Canonical Allele Identifier: CA10642114

Gene: CDK4 TSPAN31

Linked Data

• ClinVar Variation Id: 309975
• ClinVar RCV Id: RCV000273092
• dbSNP Id: rs59185470
• gnomAD v2: 12-58142004-TA-T
• gnomAD v3: 12-57748221-TA-T
• gnomAD v4: 12-57748221-TA-T
• MyVariant Identifiers: chr12:g.58142006del (hg19) ; chr12:g.58142005del (hg19) ; chr12:g.57748223del (hg38) ; chr12:g.57748222del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57748235del , CM000674.2:g.57748235del	GRCh38
NC_000012.11:g.58142018del , CM000674.1:g.58142018del	GRCh37
NC_000012.10:g.56428285del	NCBI36
NG_007484.2:g.9160del , LRG_490:g.9160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.*303del (CDK4) MANE Select	ENSP00000257904.5:n.*303del
ENST00000257910.8:c.*945del (TSPAN31) MANE Select	ENSP00000257910.3:n.*945del
ENST00000257904.10:c.*303del (CDK4)	ENSP00000257904.5:n.*303del
ENST00000312990.10:c.*527del (CDK4)	ENSP00000316889.6:n.*527del
ENST00000547992.5:c.*945del (TSPAN31)	ENSP00000448209.1:n.*945del
NM_000075.3:c.*303del (CDK4)	NP_000066.1:n.*303del
NM_005981.3:c.*945del (TSPAN31)	NP_005972.1:n.*945del
XM_005269074.2:c.*945del (TSPAN31)	XP_005269131.2:n.*945del
NM_001330168.1:c.*945del (TSPAN31)	NP_001317097.1:n.*945del
NM_001330169.1:c.*945del (TSPAN31)	NP_001317098.1:n.*945del
NM_005981.4:c.*945del (TSPAN31)	NP_005972.1:n.*945del
NM_000075.4:c.*303del (CDK4) MANE Select	NP_000066.1:n.*303del
NM_005981.5:c.*945del (TSPAN31) MANE Select	NP_005972.1:n.*945del
NM_001330168.2:c.*945del (TSPAN31)	NP_001317097.1:n.*945del
NM_001330169.2:c.*945del (TSPAN31)	NP_001317098.1:n.*945del