Canonical Allele Identifier: CA2664666351

Gene: BTD HACL1

Linked Data

• gnomAD v4: 3-15601793-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601794dup , CM000665.2:g.15601794dup	GRCh38
NC_000003.11:g.15643301dup , CM000665.1:g.15643301dup	GRCh37
NC_000003.10:g.15618305dup	NCBI36
NG_008019.1:g.5047dup
NG_008019.2:g.5443dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-117dup (BTD)	ENSP00000500069.2:n.-117dup
ENST00000672892.2:c.-117dup (BTD)	ENSP00000499944.2:n.-117dup
ENST00000303498.10:c.-393dup (BTD)	ENSP00000306477.6:n.-393dup
ENST00000417015.3:c.-117dup (BTD)	ENSP00000403775.3:n.-117dup
ENST00000427382.2:c.-17+147dup (BTD)	ENSP00000397113.2:n.-17+147dup
ENST00000449107.7:c.-17+24dup (BTD)	ENSP00000388212.2:n.-17+24dup
ENST00000467027.6:n.31dup (BTD)
ENST00000643237.3:c.-117dup (BTD) MANE Select	ENSP00000495254.2:n.-117dup
ENST00000646371.1:c.-293+24dup (BTD)	ENSP00000495866.1:n.-293+24dup
ENST00000672065.1:c.-57dup (BTD)	ENSP00000500403.1:n.-57dup
ENST00000672112.1:c.-239dup (BTD)	ENSP00000500193.1:n.-239dup
ENST00000672141.1:c.-117dup (BTD)	ENSP00000500210.1:n.-117dup
ENST00000672336.1:c.-809dup (BTD)	ENSP00000500267.1:n.-809dup
ENST00000672427.1:c.-117dup (BTD)	ENSP00000500131.1:n.-117dup
ENST00000672760.1:c.-117dup (BTD)	ENSP00000500530.1:n.-117dup
ENST00000672968.1:n.20+24dup (BTD)
ENST00000673467.1:c.-117dup (BTD)	ENSP00000500288.1:n.-117dup
ENST00000673620.1:c.-17+24dup (BTD)	ENSP00000500325.1:n.-17+24dup
ENST00000303498.9:c.-57dup (BTD)	ENSP00000306477.5:n.-57dup
ENST00000321169.9:c.-331dup (HACL1)	ENSP00000323811.5:n.-331dup
ENST00000417015.1:c.*195dup (BTD)	ENSP00000403775.1:n.*195dup
ENST00000427382.1:c.-17+147dup (BTD)	ENSP00000397113.1:n.-17+147dup
ENST00000449107.5:c.50+24dup (BTD)	ENSP00000388212.1:n.50+24dup
ENST00000471964.5:n.24dup (BTD)
ENST00000480711.1:n.47dup (BTD)
ENST00000494021.1:n.401+24dup (BTD)
ENST00000628377.2:c.-331dup (HACL1)	ENSP00000486684.1:n.-331dup
NM_000060.3:c.-57dup (BTD)	NP_000051.1:n.-57dup
NM_001281723.1:c.50+24dup (BTD)	NP_001268652.1:n.50+24dup
NM_001281724.1:c.-239dup (BTD)	NP_001268653.1:n.-239dup
NM_001281726.1:c.-57dup (BTD)	NP_001268655.1:n.-57dup
NM_001284413.1:c.-331dup (HACL1)	NP_001271342.1:n.-331dup
NM_001284415.1:c.-331dup (HACL1)	NP_001271344.1:n.-331dup
NM_001284416.1:c.-331dup (HACL1)	NP_001271345.1:n.-331dup
NM_012260.3:c.-331dup (HACL1)	NP_036392.2:n.-331dup
NR_104315.1:n.59dup (HACL1)
NM_000060.4:c.-57dup (BTD)	NP_000051.1:n.-57dup
NM_001281723.2:c.50+24dup (BTD)	NP_001268652.1:n.50+24dup
NM_001281724.2:c.-239dup (BTD)	NP_001268653.1:n.-239dup
NM_001323582.1:c.-393dup (BTD)	NP_001310511.1:n.-393dup
NM_001281723.3:c.-17+24dup (BTD)	NP_001268652.2:n.-17+24dup
NM_001281724.3:c.-305dup (BTD)	NP_001268653.2:n.-305dup
NM_001370658.1:c.-117dup (BTD) MANE Select	NP_001357587.1:n.-117dup
NM_001370752.1:c.-117dup (BTD)	NP_001357681.1:n.-117dup
NM_001370753.1:c.-117dup (BTD)	NP_001357682.1:n.-117dup
NM_001281726.2:c.-117dup (BTD)	NP_001268655.2:n.-117dup