Canonical Allele Identifier: CA690320316

Gene: CDK4

Linked Data

• dbSNP Id: rs1308442194
• gnomAD v3: 12-57750268-AGTTAGTAG-A
• gnomAD v4: 12-57750268-AGTTAGTAG-A
• MyVariant Identifiers: chr12:g.58144052_58144059del (hg19) ; chr12:g.57750269_57750276del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750269_57750276del , CM000674.2:g.57750269_57750276del	GRCh38
NC_000012.11:g.58144052_58144059del , CM000674.1:g.58144052_58144059del	GRCh37
NC_000012.10:g.56430319_56430326del	NCBI36
NG_007484.2:g.7106_7113del , LRG_490:g.7106_7113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257904.11:c.632+380_632+387del MANE Select	ENSP00000257904.5:n.632+380_632+387del
ENST00000257904.10:c.632+380_632+387del	ENSP00000257904.5:n.632+380_632+387del
ENST00000312990.10:c.280+380_280+387del	ENSP00000316889.6:n.280+380_280+387del
ENST00000546489.5:c.410+380_410+387del	ENSP00000447779.1:n.410+380_410+387del
ENST00000547281.5:c.410+380_410+387del	ENSP00000447274.1:n.410+380_410+387del
ENST00000549606.5:c.-157-772_-157-765del	ENSP00000447005.1:n.-157-772_-157-765del
ENST00000550419.5:c.*38+166_*38+173del	ENSP00000448098.1:n.*38+166_*38+173del
ENST00000551888.5:n.458+380_458+387del
ENST00000553237.5:c.*271+380_*271+387del	ENSP00000448885.1:n.*271+380_*271+387del
NM_000075.3:c.632+380_632+387del	NP_000066.1:n.632+380_632+387del
NM_000075.4:c.632+380_632+387del MANE Select	NP_000066.1:n.632+380_632+387del