Canonical Allele Identifier: CA6604280
Gene: HOXC11 HGNC NCBI
HOTAIR HGNC NCBI

Linked Data

dbSNP Id: rs779039291
ExAC: 12:54367628 TGAG / T
gnomAD v2: 12-54367628-TGAG-T
gnomAD v3: 12-53973844-TGAG-T
gnomAD v4: 12-53973844-TGAG-T
MyVariant Identifiers: chr12:g.54367629_54367631del (hg19) chr12:g.53973846_53973848del (hg38) chr12:g.53973845_53973847del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53973851_53973853del , CM000674.2:g.53973851_53973853del GRCh38
NC_000012.11:g.54367635_54367637del , CM000674.1:g.54367635_54367637del GRCh37
NC_000012.10:g.52653902_52653904del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243082.4:c.610_612del (HOXC11) ENSP00000243082.4:p.Glu204del
ENST00000546378.1:c.610_612del (HOXC11) MANE Select ENSP00000446680.1:p.Glu204del
NM_014212.3:c.610_612del (HOXC11) NP_055027.1:p.Glu204del
NR_047517.1:n.59+1051_59+1053del (HOTAIR)
NM_014212.4:c.610_612del (HOXC11) MANE Select NP_055027.1:p.Glu204del
Search 100 bp 5'
Search 100 bp 3'