Canonical Allele Identifier: CA600001770

Gene: CCND1

Linked Data

• dbSNP Id: rs1448866519
• gnomAD v2: 11-69462871-CCT-C
• MyVariant Identifiers: chr11:g.69462872_69462873del (hg19) ; chr11:g.69648104_69648105del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69648105_69648106del , CM000673.2:g.69648105_69648106del	GRCh38
NC_000011.9:g.69462873_69462874del , CM000673.1:g.69462873_69462874del	GRCh37
NC_000011.8:g.69172054_69172055del	NCBI36
NG_007375.1:g.12001_12002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227507.3:c.686_687del MANE Select	ENSP00000227507.2:p.Leu229HisfsTer11
ENST00000227507.2:c.686_687del	ENSP00000227507.2:p.Leu229HisfsTer11
ENST00000536559.1:c.*106_*107del	ENSP00000438482.1:n.*106_*107del
ENST00000542367.1:n.149_150del
ENST00000545484.1:n.392_393del
NM_053056.2:c.686_687del	NP_444284.1:p.Leu229HisfsTer11
XM_006718653.2:c.710_711del	XP_006718716.1:p.Leu237HisfsTer11
NM_053056.3:c.686_687del MANE Select	NP_444284.1:p.Leu229HisfsTer11