Canonical Allele Identifier: CA1139770131
Gene: HOXC11 HGNC NCBI
HOTAIR HGNC NCBI

Linked Data

gnomAD v4: 12-53973818-GCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53973819_53973820del , CM000674.2:g.53973819_53973820del GRCh38
NC_000012.11:g.54367603_54367604del , CM000674.1:g.54367603_54367604del GRCh37
NC_000012.10:g.52653870_52653871del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243082.4:c.578_579del (HOXC11) ENSP00000243082.4:p.Ala193GlyfsTer9
ENST00000546378.1:c.578_579del (HOXC11) MANE Select ENSP00000446680.1:p.Ala193GlyfsTer9
NM_014212.3:c.578_579del (HOXC11) NP_055027.1:p.Ala193GlyfsTer9
NR_047517.1:n.59+1078_59+1079del (HOTAIR)
NM_014212.4:c.578_579del (HOXC11) MANE Select NP_055027.1:p.Ala193GlyfsTer9
Search 100 bp 5'
Search 100 bp 3'