Canonical Allele Identifier: CA605244821
Gene: HOXC11 HGNC NCBI
HOTAIR HGNC NCBI

Linked Data

dbSNP Id: rs1474692745
gnomAD v2: 12-54367474-CCTTCGACCGTTT-C
gnomAD v4: 12-53973690-CCTTCGACCGTTT-C
MyVariant Identifiers: chr12:g.54367475_54367486del (hg19) chr12:g.53973691_53973702del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53973698_53973709del , CM000674.2:g.53973698_53973709del GRCh38
NC_000012.11:g.54367482_54367493del , CM000674.1:g.54367482_54367493del GRCh37
NC_000012.10:g.52653749_52653760del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243082.4:c.457_468del (HOXC11) ENSP00000243082.4:p.Arg153_Asp156del
ENST00000546378.1:c.457_468del (HOXC11) MANE Select ENSP00000446680.1:p.Arg153_Asp156del
NM_014212.3:c.457_468del (HOXC11) NP_055027.1:p.Arg153_Asp156del
NR_047517.1:n.59+1196_59+1207del (HOTAIR)
NM_014212.4:c.457_468del (HOXC11) MANE Select NP_055027.1:p.Arg153_Asp156del
Search 100 bp 5'
Search 100 bp 3'