Canonical Allele Identifier: CA1347655415

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs2064244727

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601578_15601584del , CM000665.2:g.15601578_15601584del	GRCh38
NC_000003.11:g.15643085_15643091del , CM000665.1:g.15643085_15643091del	GRCh37
NC_000003.10:g.15618089_15618095del	NCBI36
NG_008019.1:g.4831_4837del
NG_008019.2:g.5227_5233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-86_-80del (BTD)	ENSP00000397113.2:n.-86_-80del
ENST00000449107.7:c.-209_-203del (BTD)	ENSP00000388212.2:n.-209_-203del
ENST00000321169.9:c.-121_-115del (HACL1)	ENSP00000323811.5:n.-121_-115del
ENST00000417015.1:c.174_180del (BTD)	ENSP00000403775.1:p.Glu59ThrfsTer22
ENST00000421993.5:c.-121_-115del (HACL1)	ENSP00000391393.1:n.-121_-115del
ENST00000427382.1:c.-86_-80del (BTD)	ENSP00000397113.1:n.-86_-80del
ENST00000451445.6:c.-121_-115del (HACL1)	ENSP00000403656.2:n.-121_-115del
ENST00000494021.1:n.209_215del (BTD)
ENST00000628377.2:c.-121_-115del (HACL1)	ENSP00000486684.1:n.-121_-115del
NM_001281723.1:c.-143_-137del (BTD)	NP_001268652.1:n.-143_-137del
NM_001284413.1:c.-121_-115del (HACL1)	NP_001271342.1:n.-121_-115del
NM_001284415.1:c.-121_-115del (HACL1)	NP_001271344.1:n.-121_-115del
NM_001284416.1:c.-121_-115del (HACL1)	NP_001271345.1:n.-121_-115del
NM_012260.3:c.-121_-115del (HACL1)	NP_036392.2:n.-121_-115del
NR_104315.1:n.269_275del (HACL1)
NM_001281723.2:c.-143_-137del (BTD)	NP_001268652.1:n.-143_-137del
NM_001281723.3:c.-209_-203del (BTD)	NP_001268652.2:n.-209_-203del