Canonical Allele Identifier: CA2664666272

Gene: HACL1 BTD

Linked Data

• gnomAD v4: 3-15601543-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601545_15601546del , CM000665.2:g.15601545_15601546del	GRCh38
NC_000003.11:g.15643052_15643053del , CM000665.1:g.15643052_15643053del	GRCh37
NC_000003.10:g.15618056_15618057del	NCBI36
NG_008019.1:g.4798_4799del
NG_008019.2:g.5194_5195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321169.10:c.-82_-81del (HACL1) MANE Select	ENSP00000323811.5:n.-82_-81del
ENST00000427382.2:c.-119_-118del (BTD)	ENSP00000397113.2:n.-119_-118del
ENST00000449107.7:c.-242_-241del (BTD)	ENSP00000388212.2:n.-242_-241del
ENST00000321169.9:c.-82_-81del (HACL1)	ENSP00000323811.5:n.-82_-81del
ENST00000383779.8:c.-82_-81del (HACL1)	ENSP00000373289.4:n.-82_-81del
ENST00000414979.1:c.-82_-81del (HACL1)	ENSP00000395352.1:n.-82_-81del
ENST00000417015.1:c.141_142del (BTD)	ENSP00000403775.1:p.Arg48ProfsTer8
ENST00000421993.5:c.-82_-81del (HACL1)	ENSP00000391393.1:n.-82_-81del
ENST00000422591.5:c.-82_-81del (HACL1)	ENSP00000392796.1:n.-82_-81del
ENST00000427382.1:c.-119_-118del (BTD)	ENSP00000397113.1:n.-119_-118del
ENST00000435217.6:c.-82_-81del (HACL1)	ENSP00000395278.2:n.-82_-81del
ENST00000451445.6:c.-82_-81del (HACL1)	ENSP00000403656.2:n.-82_-81del
ENST00000456194.6:c.-82_-81del (HACL1)	ENSP00000390699.2:n.-82_-81del
ENST00000457447.6:c.-82_-81del (HACL1)	ENSP00000404883.2:n.-82_-81del
ENST00000460907.1:n.25_26del (HACL1)
ENST00000472857.1:n.2_3del (HACL1)
ENST00000494021.1:n.176_177del (BTD)
ENST00000628377.2:c.-82_-81del (HACL1)	ENSP00000486684.1:n.-82_-81del
NM_001281723.1:c.-176_-175del (BTD)	NP_001268652.1:n.-176_-175del
NM_001284413.1:c.-82_-81del (HACL1)	NP_001271342.1:n.-82_-81del
NM_001284415.1:c.-82_-81del (HACL1)	NP_001271344.1:n.-82_-81del
NM_001284416.1:c.-82_-81del (HACL1)	NP_001271345.1:n.-82_-81del
NM_012260.3:c.-82_-81del (HACL1)	NP_036392.2:n.-82_-81del
NR_104315.1:n.308_309del (HACL1)
NM_001281723.2:c.-176_-175del (BTD)	NP_001268652.1:n.-176_-175del
NM_001281723.3:c.-242_-241del (BTD)	NP_001268652.2:n.-242_-241del
NM_001284413.2:c.-82_-81del (HACL1)	NP_001271342.1:n.-82_-81del
NM_001284415.2:c.-82_-81del (HACL1)	NP_001271344.1:n.-82_-81del
NM_001284416.2:c.-82_-81del (HACL1)	NP_001271345.1:n.-82_-81del
NM_012260.4:c.-82_-81del (HACL1) MANE Select	NP_036392.2:n.-82_-81del
NR_104315.2:n.25_26del (HACL1)