Canonical Allele Identifier: CA6657752

Gene: CDK4

Linked Data

• dbSNP Id: rs577685218
• ExAC: 12:58144349 CA / C
• gnomAD v2: 12-58144349-CA-C
• gnomAD v3: 12-57750566-CA-C
• gnomAD v4: 12-57750566-CA-C
• MyVariant Identifiers: chr12:g.58144350del (hg19) ; chr12:g.57750567del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750575del , CM000674.2:g.57750575del	GRCh38
NC_000012.11:g.58144358del , CM000674.1:g.58144358del	GRCh37
NC_000012.10:g.56430625del	NCBI36
NG_007484.2:g.6815del , LRG_490:g.6815del

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.632+89del MANE Select	ENSP00000257904.5:n.632+89del
ENST00000257904.10:c.632+89del	ENSP00000257904.5:n.632+89del
ENST00000312990.10:c.280+89del	ENSP00000316889.6:n.280+89del
ENST00000546489.5:c.410+89del	ENSP00000447779.1:n.410+89del
ENST00000547281.5:c.410+89del	ENSP00000447274.1:n.410+89del
ENST00000549606.5:c.-157-1063del	ENSP00000447005.1:n.-157-1063del
ENST00000550419.5:c.523-4del	ENSP00000448098.1:n.523-4del
ENST00000551888.5:n.458+89del
ENST00000553237.5:c.*271+89del	ENSP00000448885.1:n.*271+89del
NM_000075.3:c.632+89del	NP_000066.1:n.632+89del
NM_000075.4:c.632+89del MANE Select	NP_000066.1:n.632+89del