Canonical Allele Identifier: CA2277145

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs776241930
• ExAC: 3:15643257 A / AT
• gnomAD v2: 3-15643257-A-AT
• gnomAD v4: 3-15601750-A-AT
• MyVariant Identifiers: chr3:g.15643257_15643258insT (hg19) ; chr3:g.15601750_15601751insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601752dup , CM000665.2:g.15601752dup	GRCh38
NC_000003.11:g.15643259dup , CM000665.1:g.15643259dup	GRCh37
NC_000003.10:g.15618263dup	NCBI36
NG_008019.1:g.5005dup
NG_008019.2:g.5401dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-159dup (BTD)	ENSP00000500069.2:n.-159dup
ENST00000672892.2:c.-159dup (BTD)	ENSP00000499944.2:n.-159dup
ENST00000303498.10:c.-435dup (BTD)	ENSP00000306477.6:n.-435dup
ENST00000417015.3:c.-159dup (BTD)	ENSP00000403775.3:n.-159dup
ENST00000427382.2:c.-17+105dup (BTD)	ENSP00000397113.2:n.-17+105dup
ENST00000449107.7:c.-35dup (BTD)	ENSP00000388212.2:n.-35dup
ENST00000643237.3:c.-159dup (BTD) MANE Select	ENSP00000495254.2:n.-159dup
ENST00000672065.1:c.-99dup (BTD)	ENSP00000500403.1:n.-99dup
ENST00000672112.1:c.-281dup (BTD)	ENSP00000500193.1:n.-281dup
ENST00000672141.1:c.-159dup (BTD)	ENSP00000500210.1:n.-159dup
ENST00000672968.1:n.2dup (BTD)
ENST00000673620.1:c.-35dup (BTD)	ENSP00000500325.1:n.-35dup
ENST00000303498.9:c.-99dup (BTD)	ENSP00000306477.5:n.-99dup
ENST00000321169.9:c.-288dup (HACL1)	ENSP00000323811.5:n.-288dup
ENST00000417015.1:c.*153dup (BTD)	ENSP00000403775.1:n.*153dup
ENST00000427382.1:c.-17+105dup (BTD)	ENSP00000397113.1:n.-17+105dup
ENST00000449107.5:c.32dup (BTD)	ENSP00000388212.1:p.Leu11PhefsTer19
ENST00000480711.1:n.5dup (BTD)
ENST00000494021.1:n.383dup (BTD)
ENST00000628377.2:c.-288dup (HACL1)	ENSP00000486684.1:n.-288dup
NM_000060.3:c.-99dup (BTD)	NP_000051.1:n.-99dup
NM_001281723.1:c.32dup (BTD)	NP_001268652.1:p.Leu11PhefsTer19
NM_001281724.1:c.-281dup (BTD)	NP_001268653.1:n.-281dup
NM_001281726.1:c.-99dup (BTD)	NP_001268655.1:n.-99dup
NM_001284413.1:c.-288dup (HACL1)	NP_001271342.1:n.-288dup
NM_001284415.1:c.-288dup (HACL1)	NP_001271344.1:n.-288dup
NM_001284416.1:c.-288dup (HACL1)	NP_001271345.1:n.-288dup
NM_012260.3:c.-288dup (HACL1)	NP_036392.2:n.-288dup
NR_104315.1:n.102dup (HACL1)
NM_000060.4:c.-99dup (BTD)	NP_000051.1:n.-99dup
NM_001281723.2:c.32dup (BTD)	NP_001268652.1:p.Leu11PhefsTer19
NM_001281724.2:c.-281dup (BTD)	NP_001268653.1:n.-281dup
NM_001323582.1:c.-435dup (BTD)	NP_001310511.1:n.-435dup
NM_001281723.3:c.-35dup (BTD)	NP_001268652.2:n.-35dup
NM_001281724.3:c.-347dup (BTD)	NP_001268653.2:n.-347dup
NM_001370658.1:c.-159dup (BTD) MANE Select	NP_001357587.1:n.-159dup
NM_001370752.1:c.-159dup (BTD)	NP_001357681.1:n.-159dup
NM_001370753.1:c.-159dup (BTD)	NP_001357682.1:n.-159dup
NM_001281726.2:c.-159dup (BTD)	NP_001268655.2:n.-159dup