Canonical Allele Identifier: CA1347655437

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs2064245755
• gnomAD v4: 3-15601609-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601611del , CM000665.2:g.15601611del	GRCh38
NC_000003.11:g.15643118del , CM000665.1:g.15643118del	GRCh37
NC_000003.10:g.15618122del	NCBI36
NG_008019.1:g.4864del
NG_008019.2:g.5260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-53del (BTD)	ENSP00000397113.2:n.-53del
ENST00000449107.7:c.-176del (BTD)	ENSP00000388212.2:n.-176del
ENST00000321169.9:c.-147del (HACL1)	ENSP00000323811.5:n.-147del
ENST00000417015.1:c.*12del (BTD)	ENSP00000403775.1:n.*12del
ENST00000427382.1:c.-53del (BTD)	ENSP00000397113.1:n.-53del
ENST00000494021.1:n.242del (BTD)
ENST00000628377.2:c.-147del (HACL1)	ENSP00000486684.1:n.-147del
NM_001281723.1:c.-110del (BTD)	NP_001268652.1:n.-110del
NM_001284413.1:c.-147del (HACL1)	NP_001271342.1:n.-147del
NM_001284415.1:c.-147del (HACL1)	NP_001271344.1:n.-147del
NM_001284416.1:c.-147del (HACL1)	NP_001271345.1:n.-147del
NM_012260.3:c.-147del (HACL1)	NP_036392.2:n.-147del
NR_104315.1:n.243del (HACL1)
NM_001281723.2:c.-110del (BTD)	NP_001268652.1:n.-110del
NM_001281723.3:c.-176del (BTD)	NP_001268652.2:n.-176del