Canonical Allele Identifier: CA2755336797

Gene: BTD HACL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601602_15601603insCACCCAACAC , CM000665.2:g.15601602_15601603insCACCCAACAC	GRCh38
NC_000003.11:g.15643109_15643110insCACCCAACAC , CM000665.1:g.15643109_15643110insCACCCAACAC	GRCh37
NC_000003.10:g.15618113_15618114insCACCCAACAC	NCBI36
NG_008019.1:g.4855_4856insCACCCAACAC
NG_008019.2:g.5251_5252insCACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-62_-61insCACCCAACAC (BTD)	ENSP00000397113.2:n.-62_-61insCACCCAACAC
ENST00000449107.7:c.-185_-184insCACCCAACAC (BTD)	ENSP00000388212.2:n.-185_-184insCACCCAACAC
ENST00000321169.9:c.-140_-139insGTGTTGGGTG (HACL1)	ENSP00000323811.5:n.-140_-139insGTGTTGGGTG
ENST00000417015.1:c.*3_*4insCACCCAACAC (BTD)	ENSP00000403775.1:n.*3_*4insCACCCAACAC
ENST00000427382.1:c.-62_-61insCACCCAACAC (BTD)	ENSP00000397113.1:n.-62_-61insCACCCAACAC
ENST00000494021.1:n.233_234insCACCCAACAC (BTD)
ENST00000628377.2:c.-140_-139insGTGTTGGGTG (HACL1)	ENSP00000486684.1:n.-140_-139insGTGTTGGGTG
NM_001281723.1:c.-119_-118insCACCCAACAC (BTD)	NP_001268652.1:n.-119_-118insCACCCAACAC
NM_001284413.1:c.-140_-139insGTGTTGGGTG (HACL1)	NP_001271342.1:n.-140_-139insGTGTTGGGTG
NM_001284415.1:c.-140_-139insGTGTTGGGTG (HACL1)	NP_001271344.1:n.-140_-139insGTGTTGGGTG
NM_001284416.1:c.-140_-139insGTGTTGGGTG (HACL1)	NP_001271345.1:n.-140_-139insGTGTTGGGTG
NM_012260.3:c.-140_-139insGTGTTGGGTG (HACL1)	NP_036392.2:n.-140_-139insGTGTTGGGTG
NR_104315.1:n.250_251insGTGTTGGGTG (HACL1)
NM_001281723.2:c.-119_-118insCACCCAACAC (BTD)	NP_001268652.1:n.-119_-118insCACCCAACAC
NM_001281723.3:c.-185_-184insCACCCAACAC (BTD)	NP_001268652.2:n.-185_-184insCACCCAACAC