Canonical Allele Identifier: CA605245014
Gene: HOXC11 HGNC NCBI
HOTAIR HGNC NCBI

Linked Data

dbSNP Id: rs1445303827
gnomAD v2: 12-54367529-GC-G
gnomAD v3: 12-53973745-GC-G
gnomAD v4: 12-53973745-GC-G
MyVariant Identifiers: chr12:g.54367530del (hg19) chr12:g.53973746del (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000243082.4:c.510del (HOXC11) ENSP00000243082.4:p.Cys171AlafsTer?
ENST00000546378.1:c.510del (HOXC11) MANE Select ENSP00000446680.1:p.Cys171AlafsTer?
NM_014212.3:c.510del (HOXC11) NP_055027.1:p.Cys171AlafsTer?
NR_047517.1:n.59+1152del (HOTAIR)
NM_014212.4:c.510del (HOXC11) MANE Select NP_055027.1:p.Cys171AlafsTer?
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