Canonical Allele Identifier: CA2186743293

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345536_72345537delinsGC , CM000677.2:g.72345536_72345537delinsGC	GRCh38
NC_000015.9:g.72637877_72637878delinsGC , CM000677.1:g.72637877_72637878delinsGC	GRCh37
NC_000015.8:g.70424931_70424932delinsGC	NCBI36
NG_009017.1:g.35643_35644delinsGC
NG_009017.2:g.35643_35644delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*95_*96delinsGC	ENSP00000457521.2:n.*95_*96delinsGC
ENST00000682061.1:c.*1781_*1782delinsGC	ENSP00000508316.1:n.*1781_*1782delinsGC
ENST00000682064.1:n.1662_1663delinsGC
ENST00000682177.1:c.1478_1479delinsGC	ENSP00000507409.1:n.1478_1479delinsGC
ENST00000682235.1:n.1458_1459delinsGC
ENST00000682461.1:c.1541_1542delinsGC	ENSP00000507308.1:n.1541_1542delinsGC
ENST00000682653.1:n.2439_2440delinsGC
ENST00000682657.1:c.*1272_*1273delinsGC	ENSP00000507753.1:n.*1272_*1273delinsGC
ENST00000682721.1:c.*1238_*1239delinsGC	ENSP00000507535.1:n.*1238_*1239delinsGC
ENST00000682843.1:c.*1076_*1077delinsGC	ENSP00000508173.1:n.*1076_*1077delinsGC
ENST00000683003.1:c.*1272_*1273delinsGC	ENSP00000507576.1:n.*1272_*1273delinsGC
ENST00000683133.1:c.1619_1620delinsGC	ENSP00000508108.1:n.1619_1620delinsGC
ENST00000683243.1:c.*588_*589delinsGC	ENSP00000507042.1:n.*588_*589delinsGC
ENST00000683463.1:c.*924_*925delinsGC	ENSP00000507986.1:n.*924_*925delinsGC
ENST00000683548.1:n.1893_1894delinsGC
ENST00000683579.1:c.*1333_*1334delinsGC	ENSP00000506867.1:n.*1333_*1334delinsGC
ENST00000683587.1:n.1966_1967delinsGC
ENST00000683681.1:c.*113_*114delinsGC	ENSP00000508110.1:n.*113_*114delinsGC
ENST00000683735.1:c.*1833_*1834delinsGC	ENSP00000508336.1:n.*1833_*1834delinsGC
ENST00000683853.1:c.*240_*241delinsGC	ENSP00000506834.1:n.*240_*241delinsGC
ENST00000683860.1:c.*555_*556delinsGC	ENSP00000507179.1:n.*555_*556delinsGC
ENST00000683884.1:c.*762_*763delinsGC	ENSP00000507004.1:n.*762_*763delinsGC
ENST00000684041.1:c.*568_*569delinsGC	ENSP00000508382.1:n.*568_*569delinsGC
ENST00000684125.1:c.*95_*96delinsGC	ENSP00000507320.1:n.*95_*96delinsGC
ENST00000684203.1:n.3884_3885delinsGC
ENST00000684231.1:c.*845_*846delinsGC	ENSP00000507748.1:n.*845_*846delinsGC
ENST00000684263.1:c.*1059_*1060delinsGC	ENSP00000508369.1:n.*1059_*1060delinsGC
ENST00000684305.1:c.1883_1884delinsGC	ENSP00000506819.1:n.1883_1884delinsGC
ENST00000684415.1:c.*986_*987delinsGC	ENSP00000507227.1:n.*986_*987delinsGC
ENST00000684520.1:c.*694_*695delinsGC	ENSP00000506826.1:n.*694_*695delinsGC
ENST00000684602.1:c.*1101_*1102delinsGC	ENSP00000507996.1:n.*1101_*1102delinsGC
ENST00000684667.1:c.1766_1767delinsGC	ENSP00000507003.1:n.1766_1767delinsGC
ENST00000268097.10:c.1435_1436delinsGC MANE Select	ENSP00000268097.6:p.Ala479=
ENST00000268097.9:c.1435_1436delinsGC	ENSP00000268097.5:p.Ala479=
ENST00000379915.4:c.517_518delinsGC	ENSP00000478716.1:p.Ala173=
ENST00000564677.5:n.227_228delinsGC
ENST00000565873.1:n.346_347delinsGC
ENST00000566304.5:c.1468_1469delinsGC	ENSP00000455114.1:p.Ala490=
ENST00000567027.5:c.1050_1051delinsGC
ENST00000567159.5:c.1435_1436delinsGC	ENSP00000456489.1:p.Ala479=
ENST00000567411.5:c.*956_*957delinsGC	ENSP00000455545.1:n.*956_*957delinsGC
ENST00000568777.5:n.6655_6656delinsGC
ENST00000569116.1:n.142_143delinsGC
NM_000520.4:c.1435_1436delinsGC	NP_000511.2:p.Ala479=
NM_000520.5:c.1435_1436delinsGC	NP_000511.2:p.Ala479=
NM_001318825.1:c.1468_1469delinsGC	NP_001305754.1:p.Ala490=
NR_134869.1:n.1679_1680delinsGC
NM_000520.6:c.1435_1436delinsGC MANE Select	NP_000511.2:p.Ala479=
NM_001318825.2:c.1468_1469delinsGC	NP_001305754.1:p.Ala490=
NR_134869.2:n.1220_1221delinsGC
NR_134869.3:n.1220_1221delinsGC