Canonical Allele Identifier: CA541345354

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs1378897334
• gnomAD v2: 3-15643079-CG-C
• gnomAD v4: 3-15601572-CG-C
• MyVariant Identifiers: chr3:g.15643080del (hg19) ; chr3:g.15601573del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601574del , CM000665.2:g.15601574del	GRCh38
NC_000003.11:g.15643081del , CM000665.1:g.15643081del	GRCh37
NC_000003.10:g.15618085del	NCBI36
NG_008019.1:g.4827del
NG_008019.2:g.5223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-90del (BTD)	ENSP00000397113.2:n.-90del
ENST00000449107.7:c.-213del (BTD)	ENSP00000388212.2:n.-213del
ENST00000321169.9:c.-110del (HACL1)	ENSP00000323811.5:n.-110del
ENST00000417015.1:c.170del (BTD)	ENSP00000403775.1:p.Gly57AspfsTer26
ENST00000421993.5:c.-110del (HACL1)	ENSP00000391393.1:n.-110del
ENST00000427382.1:c.-90del (BTD)	ENSP00000397113.1:n.-90del
ENST00000451445.6:c.-110del (HACL1)	ENSP00000403656.2:n.-110del
ENST00000494021.1:n.205del (BTD)
ENST00000628377.2:c.-110del (HACL1)	ENSP00000486684.1:n.-110del
NM_001281723.1:c.-147del (BTD)	NP_001268652.1:n.-147del
NM_001284413.1:c.-110del (HACL1)	NP_001271342.1:n.-110del
NM_001284415.1:c.-110del (HACL1)	NP_001271344.1:n.-110del
NM_001284416.1:c.-110del (HACL1)	NP_001271345.1:n.-110del
NM_012260.3:c.-110del (HACL1)	NP_036392.2:n.-110del
NR_104315.1:n.280del (HACL1)
NM_001281723.2:c.-147del (BTD)	NP_001268652.1:n.-147del
NM_001281723.3:c.-213del (BTD)	NP_001268652.2:n.-213del