Canonical Allele Identifier: CA1347655424

Gene: BTD HACL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601587_15601600delinsCCAACTGCCTTAAA , CM000665.2:g.15601587_15601600delinsCCAACTGCCTTAAA	GRCh38
NC_000003.11:g.15643094_15643107delinsCCAACTGCCTTAAA , CM000665.1:g.15643094_15643107delinsCCAACTGCCTTAAA	GRCh37
NC_000003.10:g.15618098_15618111delinsCCAACTGCCTTAAA	NCBI36
NG_008019.1:g.4840_4853delinsCCAACTGCCTTAAA
NG_008019.2:g.5236_5249delinsCCAACTGCCTTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-77_-64delinsCCAACTGCCTTAAA (BTD)	ENSP00000397113.2:n.-77_-64delinsCCAACTGCCTTAAA
ENST00000449107.7:c.-200_-187delinsCCAACTGCCTTAAA (BTD)	ENSP00000388212.2:n.-200_-187delinsCCAACTGCCTTAAA
ENST00000321169.9:c.-137_-124delinsTTTAAGGCAGTTGG (HACL1)	ENSP00000323811.5:n.-137_-124delinsTTTAAGGCAGTTGG
ENST00000417015.1:c.183_*1delinsCCAACTGCCTTAAA (BTD)	ENSP00000403775.1:n.[c.183_*1delinsCCAACTGCCTTAAA;Asn61=]
ENST00000427382.1:c.-77_-64delinsCCAACTGCCTTAAA (BTD)	ENSP00000397113.1:n.-77_-64delinsCCAACTGCCTTAAA
ENST00000494021.1:n.218_231delinsCCAACTGCCTTAAA (BTD)
ENST00000628377.2:c.-137_-124delinsTTTAAGGCAGTTGG (HACL1)	ENSP00000486684.1:n.-137_-124delinsTTTAAGGCAGTTGG
NM_001281723.1:c.-134_-121delinsCCAACTGCCTTAAA (BTD)	NP_001268652.1:n.-134_-121delinsCCAACTGCCTTAAA
NM_001284413.1:c.-137_-124delinsTTTAAGGCAGTTGG (HACL1)	NP_001271342.1:n.-137_-124delinsTTTAAGGCAGTTGG
NM_001284415.1:c.-137_-124delinsTTTAAGGCAGTTGG (HACL1)	NP_001271344.1:n.-137_-124delinsTTTAAGGCAGTTGG
NM_001284416.1:c.-137_-124delinsTTTAAGGCAGTTGG (HACL1)	NP_001271345.1:n.-137_-124delinsTTTAAGGCAGTTGG
NM_012260.3:c.-137_-124delinsTTTAAGGCAGTTGG (HACL1)	NP_036392.2:n.-137_-124delinsTTTAAGGCAGTTGG
NR_104315.1:n.253_266delinsTTTAAGGCAGTTGG (HACL1)
NM_001281723.2:c.-134_-121delinsCCAACTGCCTTAAA (BTD)	NP_001268652.1:n.-134_-121delinsCCAACTGCCTTAAA
NM_001281723.3:c.-200_-187delinsCCAACTGCCTTAAA (BTD)	NP_001268652.2:n.-200_-187delinsCCAACTGCCTTAAA