Canonical Allele Identifier: CA2619494425

Gene: CDK4

Linked Data

• gnomAD v4: 12-57750522-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750523del , CM000674.2:g.57750523del	GRCh38
NC_000012.11:g.58144306del , CM000674.1:g.58144306del	GRCh37
NC_000012.10:g.56430573del	NCBI36
NG_007484.2:g.6859del , LRG_490:g.6859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.632+133del MANE Select	ENSP00000257904.5:n.632+133del
ENST00000257904.10:c.632+133del	ENSP00000257904.5:n.632+133del
ENST00000312990.10:c.280+133del	ENSP00000316889.6:n.280+133del
ENST00000546489.5:c.410+133del	ENSP00000447779.1:n.410+133del
ENST00000547281.5:c.410+133del	ENSP00000447274.1:n.410+133del
ENST00000549606.5:c.-157-1019del	ENSP00000447005.1:n.-157-1019del
ENST00000550419.5:c.563del	ENSP00000448098.1:p.His188LeufsTer?
ENST00000551888.5:n.458+133del
ENST00000553237.5:c.*271+133del	ENSP00000448885.1:n.*271+133del
NM_000075.3:c.632+133del	NP_000066.1:n.632+133del
NM_000075.4:c.632+133del MANE Select	NP_000066.1:n.632+133del