Canonical Allele Identifier: CA690320420

Gene: CDK4

Linked Data

• dbSNP Id: rs1483949535
• gnomAD v3: 12-57750526-CAT-C
• gnomAD v4: 12-57750526-CAT-C
• MyVariant Identifiers: chr12:g.58144310_58144311del (hg19) ; chr12:g.57750527_57750528del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750527_57750528del , CM000674.2:g.57750527_57750528del	GRCh38
NC_000012.11:g.58144310_58144311del , CM000674.1:g.58144310_58144311del	GRCh37
NC_000012.10:g.56430577_56430578del	NCBI36
NG_007484.2:g.6854_6855del , LRG_490:g.6854_6855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.632+128_632+129del MANE Select	ENSP00000257904.5:n.632+128_632+129del
ENST00000257904.10:c.632+128_632+129del	ENSP00000257904.5:n.632+128_632+129del
ENST00000312990.10:c.280+128_280+129del	ENSP00000316889.6:n.280+128_280+129del
ENST00000546489.5:c.410+128_410+129del	ENSP00000447779.1:n.410+128_410+129del
ENST00000547281.5:c.410+128_410+129del	ENSP00000447274.1:n.410+128_410+129del
ENST00000549606.5:c.-157-1024_-157-1023del	ENSP00000447005.1:n.-157-1024_-157-1023del
ENST00000550419.5:c.558_559del	ENSP00000448098.1:p.Trp187AlafsTer2
ENST00000551888.5:n.458+128_458+129del
ENST00000553237.5:c.*271+128_*271+129del	ENSP00000448885.1:n.*271+128_*271+129del
NM_000075.3:c.632+128_632+129del	NP_000066.1:n.632+128_632+129del
NM_000075.4:c.632+128_632+129del MANE Select	NP_000066.1:n.632+128_632+129del