Canonical Allele Identifier: CA2847187742

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72375981_72375982insCGAGAGTGCATCTCGATCGGATCAAA , CM000677.2:g.72375981_72375982insCGAGAGTGCATCTCGATCGGATCAAA	GRCh38
NC_000015.9:g.72668322_72668323insCGAGAGTGCATCTCGATCGGATCAAA , CM000677.1:g.72668322_72668323insCGAGAGTGCATCTCGATCGGATCAAA	GRCh37
NC_000015.8:g.70455376_70455377insCGAGAGTGCATCTCGATCGGATCAAA	NCBI36
NG_009017.1:g.5198_5199insTTTGATCCGATCGAGATGCACTCTCG
NG_009017.2:g.5198_5199insTTTGATCCGATCGAGATGCACTCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.4_5insTTTGATCCGATCGAGATGCACTCTCG
ENST00000567027.6:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000457521.2:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000682061.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000508316.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000682653.1:n.22_23insTTTGATCCGATCGAGATGCACTCTCG
ENST00000682657.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000507753.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000682721.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000507535.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000683003.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000507576.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000683228.1:n.22_23insTTTGATCCGATCGAGATGCACTCTCG
ENST00000683243.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000507042.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000683463.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000507986.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000683548.1:n.22_23insTTTGATCCGATCGAGATGCACTCTCG
ENST00000683579.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000506867.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000683587.1:n.22_23insTTTGATCCGATCGAGATGCACTCTCG
ENST00000683681.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000508110.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000683735.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000508336.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000683853.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000506834.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000683860.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000507179.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000683884.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000507004.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000684041.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000508382.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000684125.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000507320.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000684203.1:n.8_9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000684231.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000507748.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000684263.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000508369.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000684415.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000507227.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000684520.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000506826.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000684602.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000507996.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000268097.10:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG MANE Select	ENSP00000268097.6:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000268097.9:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000268097.5:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000566304.5:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000455114.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000566672.5:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000457037.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000567159.5:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000456489.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000567213.2:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000478217.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000567411.5:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	ENSP00000455545.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
ENST00000569509.5:n.147-151_147-150insTTTGATCCGATCGAGATGCACTCTCG
NM_000520.4:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	NP_000511.2:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
NM_000520.5:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	NP_000511.2:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
NM_001318825.1:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	NP_001305754.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
NR_134869.1:n.492_493insTTTGATCCGATCGAGATGCACTCTCG
NM_000520.6:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG MANE Select	NP_000511.2:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
NM_001318825.2:c.-10_-9insTTTGATCCGATCGAGATGCACTCTCG	NP_001305754.1:n.-10_-9insTTTGATCCGATCGAGATGCACTCTCG
NR_134869.2:n.33_34insTTTGATCCGATCGAGATGCACTCTCG
NR_134869.3:n.33_34insTTTGATCCGATCGAGATGCACTCTCG