Canonical Allele Identifier: CA658823420

Gene: CDK4

Linked Data

• ClinVar Variation Id: 548744
• ClinVar RCV Id: RCV000662557
• dbSNP Id: rs1555201295
• MyVariant Identifiers: chr12:g.58144701_58144723del (hg19) ; chr12:g.57750918_57750940del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57750921_57750943del , CM000674.2:g.57750921_57750943del	GRCh38
NC_000012.11:g.58144704_58144726del , CM000674.1:g.58144704_58144726del	GRCh37
NC_000012.10:g.56430971_56430993del	NCBI36
NG_007484.2:g.6442_6464del , LRG_490:g.6442_6464del

Transcript Alleles

HGVS	Amino-acid change
ENST00000257904.11:c.505_522+5del
ENST00000257904.10:c.505_522+5del
ENST00000312990.10:c.265-269_265-247del	ENSP00000316889.6:n.265-269_265-247del
ENST00000546489.5:c.283_300+5del
ENST00000547281.5:c.283_300+5del
ENST00000549606.5:c.-158+1235_-158+1257del	ENSP00000447005.1:n.-158+1235_-158+1257de...
ENST00000550419.5:c.505_522+5del
ENST00000551706.1:n.871_893del
ENST00000551800.5:c.283_300+5del
ENST00000551888.5:n.443-269_443-247del
ENST00000552254.5:c.505_522+5del
ENST00000553237.5:c.*144_*161+5del
NM_000075.3:c.505_522+5del
NM_000075.4:c.505_522+5del