Canonical Allele Identifier: CA605327050

Gene: CDK4 TSPAN31

Linked Data

• gnomAD v2: 12-58143941-AAT-A
• gnomAD v4: 12-57750158-AAT-A
• MyVariant Identifiers: chr12:g.58143942_58143943del (hg19) ; chr12:g.57750159_57750160del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750160_57750161del , CM000674.2:g.57750160_57750161del	GRCh38
NC_000012.11:g.58143943_58143944del , CM000674.1:g.58143943_58143944del	GRCh37
NC_000012.10:g.56430210_56430211del	NCBI36
NG_007484.2:g.7222_7223del , LRG_490:g.7222_7223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.632+496_632+497del (CDK4) MANE Select	ENSP00000257904.5:n.632+496_632+497del
ENST00000257910.8:c.*2870_*2871del (TSPAN31) MANE Select	ENSP00000257910.3:n.*2870_*2871del
ENST00000257904.10:c.632+496_632+497del (CDK4)	ENSP00000257904.5:n.632+496_632+497del
ENST00000312990.10:c.280+496_280+497del (CDK4)	ENSP00000316889.6:n.280+496_280+497del
ENST00000546489.5:c.410+496_410+497del (CDK4)	ENSP00000447779.1:n.410+496_410+497del
ENST00000547281.5:c.410+496_410+497del (CDK4)	ENSP00000447274.1:n.410+496_410+497del
ENST00000547992.5:c.*2870_*2871del (TSPAN31)	ENSP00000448209.1:n.*2870_*2871del
ENST00000549606.5:c.-157-656_-157-655del (CDK4)	ENSP00000447005.1:n.-157-656_-157-655del
ENST00000550419.5:c.*38+282_*38+283del (CDK4)	ENSP00000448098.1:n.*38+282_*38+283del
ENST00000551888.5:n.458+496_458+497del (CDK4)
ENST00000553237.5:c.*271+496_*271+497del (CDK4)	ENSP00000448885.1:n.*271+496_*271+497del
NM_000075.3:c.632+496_632+497del (CDK4)	NP_000066.1:n.632+496_632+497del
NM_000075.4:c.632+496_632+497del (CDK4) MANE Select	NP_000066.1:n.632+496_632+497del
NM_005981.5:c.*2870_*2871del (TSPAN31) MANE Select	NP_005972.1:n.*2870_*2871del
NM_001330168.2:c.*2870_*2871del (TSPAN31)	NP_001317097.1:n.*2870_*2871del
NM_001330169.2:c.*2870_*2871del (TSPAN31)	NP_001317098.1:n.*2870_*2871del