Canonical Allele Identifier: CA6657753

Gene: CDK4

Linked Data

• dbSNP Id: rs577685218
• ExAC: 12:58144349 C / CA
• gnomAD v2: 12-58144349-C-CA
• gnomAD v3: 12-57750566-C-CA
• gnomAD v4: 12-57750566-C-CA
• MyVariant Identifiers: chr12:g.58144350_58144351insA (hg19) ; chr12:g.58144349_58144350insA (hg19) ; chr12:g.57750566_57750567insA (hg38)

Genomic Alleles

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

Transcript Alleles

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