Canonical Allele Identifier: CA2619096522
Gene: HOXC11 HGNC NCBI
HOTAIR HGNC NCBI

Linked Data

gnomAD v4: 12-53973765-GCGAGGCCAAGGGGGAGCC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53973772_53973789del , CM000674.2:g.53973772_53973789del GRCh38
NC_000012.11:g.54367556_54367573del , CM000674.1:g.54367556_54367573del GRCh37
NC_000012.10:g.52653823_52653840del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243082.4:c.531_548del (HOXC11) ENSP00000243082.4:p.Lys178_Ala183del
ENST00000546378.1:c.531_548del (HOXC11) MANE Select ENSP00000446680.1:p.Lys178_Ala183del
NM_014212.3:c.531_548del (HOXC11) NP_055027.1:p.Lys178_Ala183del
NR_047517.1:n.59+1115_59+1132del (HOTAIR)
NM_014212.4:c.531_548del (HOXC11) MANE Select NP_055027.1:p.Lys178_Ala183del
Search 100 bp 5'
Search 100 bp 3'