Canonical Allele Identifier: CA491117017

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638919_72638920insGATA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346576_72346579dup , CM000677.2:g.72346576_72346579dup	GRCh38
NC_000015.9:g.72638917_72638920dup , CM000677.1:g.72638917_72638920dup	GRCh37
NC_000015.8:g.70425971_70425974dup	NCBI36
NG_009017.1:g.34601_34604dup
NG_009017.2:g.34601_34604dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-254_1074-251dup	ENSP00000457521.2:n.1074-254_1074-251dup
ENST00000682061.1:c.*940_*943dup	ENSP00000508316.1:n.*940_*943dup
ENST00000682064.1:n.620_623dup
ENST00000682177.1:c.1321_1324dup	ENSP00000507409.1:n.1321_1324dup
ENST00000682235.1:n.617_620dup
ENST00000682461.1:c.1384_1387dup	ENSP00000507308.1:n.1384_1387dup
ENST00000682653.1:n.1598_1601dup
ENST00000682657.1:c.*484-254_*484-251dup	ENSP00000507753.1:n.*484-254_*484-251dup
ENST00000682721.1:c.*1081_*1084dup	ENSP00000507535.1:n.*1081_*1084dup
ENST00000682843.1:c.*972-254_*972-251dup	ENSP00000508173.1:n.*972-254_*972-251dup
ENST00000683003.1:c.*484-254_*484-251dup	ENSP00000507576.1:n.*484-254_*484-251dup
ENST00000683133.1:c.1462_1465dup	ENSP00000508108.1:n.1462_1465dup
ENST00000683243.1:c.*484-254_*484-251dup	ENSP00000507042.1:n.*484-254_*484-251dup
ENST00000683463.1:c.*83_*86dup	ENSP00000507986.1:n.*83_*86dup
ENST00000683548.1:n.1105-254_1105-251dup
ENST00000683579.1:c.*1176_*1179dup	ENSP00000506867.1:n.*1176_*1179dup
ENST00000683587.1:n.1178-254_1178-251dup
ENST00000683681.1:c.1278_1281dup	ENSP00000508110.1:p.Gly428LeufsTer4
ENST00000683735.1:c.*1045-254_*1045-251dup	ENSP00000508336.1:n.*1045-254_*1045-251dup
ENST00000683853.1:c.*83_*86dup	ENSP00000506834.1:n.*83_*86dup
ENST00000683860.1:c.1278_1281dup	ENSP00000507179.1:p.Gly428LeufsTer4
ENST00000683884.1:c.1147-254_1147-251dup	ENSP00000507004.1:n.1147-254_1147-251dup
ENST00000684041.1:c.1278_1281dup	ENSP00000508382.1:p.Gly428LeufsTer4
ENST00000684125.1:c.1074-254_1074-251dup	ENSP00000507320.1:n.1074-254_1074-251dup
ENST00000684203.1:n.3043_3046dup
ENST00000684231.1:c.*688_*691dup	ENSP00000507748.1:n.*688_*691dup
ENST00000684263.1:c.*218_*221dup	ENSP00000508369.1:n.*218_*221dup
ENST00000684305.1:c.1726_1729dup	ENSP00000506819.1:n.1726_1729dup
ENST00000684415.1:c.*145_*148dup	ENSP00000507227.1:n.*145_*148dup
ENST00000684520.1:c.1278_1281dup	ENSP00000506826.1:p.Gly428LeufsTer4
ENST00000684602.1:c.*944_*947dup	ENSP00000507996.1:n.*944_*947dup
ENST00000684667.1:c.1609_1612dup	ENSP00000507003.1:n.1609_1612dup
ENST00000268097.10:c.1278_1281dup MANE Select	ENSP00000268097.6:p.Gly428LeufsTer4
ENST00000268097.9:c.1278_1281dup	ENSP00000268097.5:p.Gly428LeufsTer4
ENST00000379915.4:c.413-254_413-251dup	ENSP00000478716.1:n.413-254_413-251dup
ENST00000563762.5:c.826-254_826-251dup	ENSP00000456346.1:n.826-254_826-251dup
ENST00000566304.5:c.1311_1314dup	ENSP00000455114.1:p.Gly439LeufsTer4
ENST00000566672.5:c.*688_*691dup	ENSP00000457037.1:n.*688_*691dup
ENST00000567027.5:c.946-254_946-251dup
ENST00000567159.5:c.1278_1281dup	ENSP00000456489.1:p.Gly428LeufsTer4
ENST00000567411.5:c.*799_*802dup	ENSP00000455545.1:n.*799_*802dup
ENST00000568777.5:n.6551-254_6551-251dup
ENST00000569410.5:c.*83_*86dup	ENSP00000457125.1:n.*83_*86dup
NM_000520.4:c.1278_1281dup	NP_000511.2:p.Gly428LeufsTer4
NM_000520.5:c.1278_1281dup	NP_000511.2:p.Gly428LeufsTer4
NM_001318825.1:c.1311_1314dup	NP_001305754.1:p.Gly439LeufsTer4
NR_134869.1:n.1575-254_1575-251dup
NM_000520.6:c.1278_1281dup MANE Select	NP_000511.2:p.Gly428LeufsTer4
NM_001318825.2:c.1311_1314dup	NP_001305754.1:p.Gly439LeufsTer4
NR_134869.2:n.1116-254_1116-251dup
NR_134869.3:n.1116-254_1116-251dup