Canonical Allele Identifier: CA690320209

Gene: CDK4 TSPAN31

Linked Data

• dbSNP Id: rs1234361253
• gnomAD v3: 12-57750156-TAAATAAATAAATA-T
• gnomAD v4: 12-57750156-TAAATAAATAAATA-T
• MyVariant Identifiers: chr12:g.58143940_58143952del (hg19) ; chr12:g.57750157_57750169del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750159_57750171del , CM000674.2:g.57750159_57750171del	GRCh38
NC_000012.11:g.58143942_58143954del , CM000674.1:g.58143942_58143954del	GRCh37
NC_000012.10:g.56430209_56430221del	NCBI36
NG_007484.2:g.7213_7225del , LRG_490:g.7213_7225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.632+487_632+499del (CDK4) MANE Select	ENSP00000257904.5:n.632+487_632+499del
ENST00000257910.8:c.*2869_*2881del (TSPAN31) MANE Select	ENSP00000257910.3:n.*2869_*2881del
ENST00000257904.10:c.632+487_632+499del (CDK4)	ENSP00000257904.5:n.632+487_632+499del
ENST00000312990.10:c.280+487_280+499del (CDK4)	ENSP00000316889.6:n.280+487_280+499del
ENST00000546489.5:c.410+487_410+499del (CDK4)	ENSP00000447779.1:n.410+487_410+499del
ENST00000547281.5:c.410+487_410+499del (CDK4)	ENSP00000447274.1:n.410+487_410+499del
ENST00000547992.5:c.*2869_*2881del (TSPAN31)	ENSP00000448209.1:n.*2869_*2881del
ENST00000549606.5:c.-157-665_-157-653del (CDK4)	ENSP00000447005.1:n.-157-665_-157-653del
ENST00000550419.5:c.*38+273_*38+285del (CDK4)	ENSP00000448098.1:n.*38+273_*38+285del
ENST00000551888.5:n.458+487_458+499del (CDK4)
ENST00000553237.5:c.*271+487_*271+499del (CDK4)	ENSP00000448885.1:n.*271+487_*271+499del
NM_000075.3:c.632+487_632+499del (CDK4)	NP_000066.1:n.632+487_632+499del
NM_000075.4:c.632+487_632+499del (CDK4) MANE Select	NP_000066.1:n.632+487_632+499del
NM_005981.5:c.*2869_*2881del (TSPAN31) MANE Select	NP_005972.1:n.*2869_*2881del
NM_001330168.2:c.*2869_*2881del (TSPAN31)	NP_001317097.1:n.*2869_*2881del
NM_001330169.2:c.*2869_*2881del (TSPAN31)	NP_001317098.1:n.*2869_*2881del