Canonical Allele Identifier: CA2619494922

Gene: CDK4

Linked Data

• gnomAD v4: 12-57750930-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750931dup , CM000674.2:g.57750931dup	GRCh38
NC_000012.11:g.58144714dup , CM000674.1:g.58144714dup	GRCh37
NC_000012.10:g.56430981dup	NCBI36
NG_007484.2:g.6451dup , LRG_490:g.6451dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.514dup MANE Select	ENSP00000257904.5:p.Thr172AsnfsTer?
ENST00000257904.10:c.514dup	ENSP00000257904.5:p.Thr172AsnfsTer?
ENST00000312990.10:c.265-260dup	ENSP00000316889.6:n.265-260dup
ENST00000546489.5:c.292dup	ENSP00000447779.1:p.Thr98AsnfsTer?
ENST00000547281.5:c.292dup	ENSP00000447274.1:p.Thr98AsnfsTer?
ENST00000549606.5:c.-158+1244dup	ENSP00000447005.1:n.-158+1244dup
ENST00000550419.5:c.514dup	ENSP00000448098.1:p.Thr172AsnfsTer18
ENST00000551706.1:n.880dup
ENST00000551800.5:c.292dup	ENSP00000449391.1:p.Thr98AsnfsTer?
ENST00000551888.5:n.443-260dup
ENST00000552254.5:c.514dup	ENSP00000449179.1:p.Thr172AsnfsTer?
ENST00000553237.5:c.*153dup	ENSP00000448885.1:n.*153dup
NM_000075.3:c.514dup	NP_000066.1:p.Thr172AsnfsTer?
NM_000075.4:c.514dup MANE Select	NP_000066.1:p.Thr172AsnfsTer?