Canonical Allele Identifier: CA1347655428

Gene: BTD HACL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601597_15601598delinsTA , CM000665.2:g.15601597_15601598delinsTA	GRCh38
NC_000003.11:g.15643104_15643105delinsTA , CM000665.1:g.15643104_15643105delinsTA	GRCh37
NC_000003.10:g.15618108_15618109delinsTA	NCBI36
NG_008019.1:g.4850_4851delinsTA
NG_008019.2:g.5246_5247delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-67_-66delinsTA (BTD)	ENSP00000397113.2:n.-67_-66delinsTA
ENST00000449107.7:c.-190_-189delinsTA (BTD)	ENSP00000388212.2:n.-190_-189delinsTA
ENST00000321169.9:c.-135_-134delinsTA (HACL1)	ENSP00000323811.5:n.-135_-134delinsTA
ENST00000417015.1:c.193_194delinsTA (BTD)	ENSP00000403775.1:p.Ter65=
ENST00000427382.1:c.-67_-66delinsTA (BTD)	ENSP00000397113.1:n.-67_-66delinsTA
ENST00000494021.1:n.228_229delinsTA (BTD)
ENST00000628377.2:c.-135_-134delinsTA (HACL1)	ENSP00000486684.1:n.-135_-134delinsTA
NM_001281723.1:c.-124_-123delinsTA (BTD)	NP_001268652.1:n.-124_-123delinsTA
NM_001284413.1:c.-135_-134delinsTA (HACL1)	NP_001271342.1:n.-135_-134delinsTA
NM_001284415.1:c.-135_-134delinsTA (HACL1)	NP_001271344.1:n.-135_-134delinsTA
NM_001284416.1:c.-135_-134delinsTA (HACL1)	NP_001271345.1:n.-135_-134delinsTA
NM_012260.3:c.-135_-134delinsTA (HACL1)	NP_036392.2:n.-135_-134delinsTA
NR_104315.1:n.255_256delinsTA (HACL1)
NM_001281723.2:c.-124_-123delinsTA (BTD)	NP_001268652.1:n.-124_-123delinsTA
NM_001281723.3:c.-190_-189delinsTA (BTD)	NP_001268652.2:n.-190_-189delinsTA