Canonical Allele Identifier: CA6657739

Gene: CDK4

Linked Data

• dbSNP Id: rs779251916
• ExAC: 12:58144252 AG / A
• gnomAD v2: 12-58144252-AG-A
• gnomAD v4: 12-57750469-AG-A
• MyVariant Identifiers: chr12:g.58144253del (hg19) ; chr12:g.57750470del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750470del , CM000674.2:g.57750470del	GRCh38
NC_000012.11:g.58144253del , CM000674.1:g.58144253del	GRCh37
NC_000012.10:g.56430520del	NCBI36
NG_007484.2:g.6912del , LRG_490:g.6912del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.632+186del MANE Select	ENSP00000257904.5:n.632+186del
ENST00000257904.10:c.632+186del	ENSP00000257904.5:n.632+186del
ENST00000312990.10:c.280+186del	ENSP00000316889.6:n.280+186del
ENST00000546489.5:c.410+186del	ENSP00000447779.1:n.410+186del
ENST00000547281.5:c.410+186del	ENSP00000447274.1:n.410+186del
ENST00000549606.5:c.-157-966del	ENSP00000447005.1:n.-157-966del
ENST00000550419.5:c.*10del	ENSP00000448098.1:n.*10del
ENST00000551888.5:n.458+186del
ENST00000553237.5:c.*271+186del	ENSP00000448885.1:n.*271+186del
NM_000075.3:c.632+186del	NP_000066.1:n.632+186del
NM_000075.4:c.632+186del MANE Select	NP_000066.1:n.632+186del