Canonical Allele Identifier: CA605245016

Gene: HOXC11 HOTAIR

Linked Data

• dbSNP Id: rs1445303827
• gnomAD v2: 12-54367529-G-GC
• gnomAD v3: 12-53973745-G-GC
• gnomAD v4: 12-53973745-G-GC
• COSMIC: COSM4690996
• MyVariant Identifiers: chr12:g.54367530_54367531insC (hg19) ; chr12:g.54367529_54367530insC (hg19) ; chr12:g.53973746_53973747insC (hg38) ; chr12:g.53973745_53973746insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53973751dup , CM000674.2:g.53973751dup	GRCh38
NC_000012.11:g.54367535dup , CM000674.1:g.54367535dup	GRCh37
NC_000012.10:g.52653802dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243082.4:c.510dup (HOXC11)	ENSP00000243082.4:p.Cys171LeufsTer24
ENST00000546378.1:c.510dup (HOXC11) MANE Select	ENSP00000446680.1:p.Cys171LeufsTer24
NM_014212.3:c.510dup (HOXC11)	NP_055027.1:p.Cys171LeufsTer24
NR_047517.1:n.59+1152dup (HOTAIR)
NM_014212.4:c.510dup (HOXC11) MANE Select	NP_055027.1:p.Cys171LeufsTer24