Canonical Allele Identifier: CA70635649

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs889120111
• gnomAD v2: 3-15643167-A-AC
• gnomAD v3: 3-15601660-A-AC
• gnomAD v4: 3-15601660-A-AC
• MyVariant Identifiers: chr3:g.15643167_15643168insC (hg19) ; chr3:g.15601660_15601661insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601661dup , CM000665.2:g.15601661dup	GRCh38
NC_000003.11:g.15643168dup , CM000665.1:g.15643168dup	GRCh37
NC_000003.10:g.15618172dup	NCBI36
NG_008019.1:g.4914dup
NG_008019.2:g.5310dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-17+14dup (BTD)	ENSP00000397113.2:n.-17+14dup
ENST00000449107.7:c.-126dup (BTD)	ENSP00000388212.2:n.-126dup
ENST00000321169.9:c.-198dup (HACL1)	ENSP00000323811.5:n.-198dup
ENST00000417015.1:c.*62dup (BTD)	ENSP00000403775.1:n.*62dup
ENST00000427382.1:c.-17+14dup (BTD)	ENSP00000397113.1:n.-17+14dup
ENST00000449107.5:c.-60dup (BTD)	ENSP00000388212.1:n.-60dup
ENST00000494021.1:n.292dup (BTD)
ENST00000628377.2:c.-198dup (HACL1)	ENSP00000486684.1:n.-198dup
NM_001281723.1:c.-60dup (BTD)	NP_001268652.1:n.-60dup
NM_001284413.1:c.-198dup (HACL1)	NP_001271342.1:n.-198dup
NM_001284415.1:c.-198dup (HACL1)	NP_001271344.1:n.-198dup
NM_001284416.1:c.-198dup (HACL1)	NP_001271345.1:n.-198dup
NM_012260.3:c.-198dup (HACL1)	NP_036392.2:n.-198dup
NR_104315.1:n.192dup (HACL1)
NM_001281723.2:c.-60dup (BTD)	NP_001268652.1:n.-60dup
NM_001281723.3:c.-126dup (BTD)	NP_001268652.2:n.-126dup