Canonical Allele Identifier: CA1347655414

Gene: BTD HACL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601577_15601584delinsAGGAGGGC , CM000665.2:g.15601577_15601584delinsAGGAGGGC	GRCh38
NC_000003.11:g.15643084_15643091delinsAGGAGGGC , CM000665.1:g.15643084_15643091delinsAGGAGGGC	GRCh37
NC_000003.10:g.15618088_15618095delinsAGGAGGGC	NCBI36
NG_008019.1:g.4830_4837delinsAGGAGGGC
NG_008019.2:g.5226_5233delinsAGGAGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-87_-80delinsAGGAGGGC (BTD)	ENSP00000397113.2:n.-87_-80delinsAGGAGGGC
ENST00000449107.7:c.-210_-203delinsAGGAGGGC (BTD)	ENSP00000388212.2:n.-210_-203delinsAGGAGGGC
ENST00000321169.9:c.-121_-114delinsGCCCTCCT (HACL1)	ENSP00000323811.5:n.-121_-114delinsGCCCTCCT
ENST00000417015.1:c.173_180delinsAGGAGGGC (BTD)	ENSP00000403775.1:p.Gln58=
ENST00000421993.5:c.-121_-114delinsGCCCTCCT (HACL1)	ENSP00000391393.1:n.-121_-114delinsGCCCTCCT
ENST00000427382.1:c.-87_-80delinsAGGAGGGC (BTD)	ENSP00000397113.1:n.-87_-80delinsAGGAGGGC
ENST00000451445.6:c.-121_-114delinsGCCCTCCT (HACL1)	ENSP00000403656.2:n.-121_-114delinsGCCCTCCT
ENST00000494021.1:n.208_215delinsAGGAGGGC (BTD)
ENST00000628377.2:c.-121_-114delinsGCCCTCCT (HACL1)	ENSP00000486684.1:n.-121_-114delinsGCCCTCCT
NM_001281723.1:c.-144_-137delinsAGGAGGGC (BTD)	NP_001268652.1:n.-144_-137delinsAGGAGGGC
NM_001284413.1:c.-121_-114delinsGCCCTCCT (HACL1)	NP_001271342.1:n.-121_-114delinsGCCCTCCT
NM_001284415.1:c.-121_-114delinsGCCCTCCT (HACL1)	NP_001271344.1:n.-121_-114delinsGCCCTCCT
NM_001284416.1:c.-121_-114delinsGCCCTCCT (HACL1)	NP_001271345.1:n.-121_-114delinsGCCCTCCT
NM_012260.3:c.-121_-114delinsGCCCTCCT (HACL1)	NP_036392.2:n.-121_-114delinsGCCCTCCT
NR_104315.1:n.269_276delinsGCCCTCCT (HACL1)
NM_001281723.2:c.-144_-137delinsAGGAGGGC (BTD)	NP_001268652.1:n.-144_-137delinsAGGAGGGC
NM_001281723.3:c.-210_-203delinsAGGAGGGC (BTD)	NP_001268652.2:n.-210_-203delinsAGGAGGGC