Canonical Allele Identifier: CA2186743389

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345790_72345793delinsGAAT , CM000677.2:g.72345790_72345793delinsGAAT	GRCh38
NC_000015.9:g.72638131_72638134delinsGAAT , CM000677.1:g.72638131_72638134delinsGAAT	GRCh37
NC_000015.8:g.70425185_70425188delinsGAAT	NCBI36
NG_009017.1:g.35387_35390delinsATTC
NG_009017.2:g.35387_35390delinsATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-243_*82-240delinsATTC	ENSP00000457521.2:n.*82-243_*82-240delinsATTC
ENST00000682061.1:c.*1525_*1528delinsATTC	ENSP00000508316.1:n.*1525_*1528delinsATTC
ENST00000682064.1:n.1406_1409delinsATTC
ENST00000682177.1:c.1465-243_1465-240delinsATTC	ENSP00000507409.1:n.1465-243_1465-240delinsATTC
ENST00000682235.1:n.1202_1205delinsATTC
ENST00000682461.1:c.1528-243_1528-240delinsATTC	ENSP00000507308.1:n.1528-243_1528-240delinsATTC
ENST00000682653.1:n.2183_2186delinsATTC
ENST00000682657.1:c.*1016_*1019delinsATTC	ENSP00000507753.1:n.*1016_*1019delinsATTC
ENST00000682721.1:c.*1225-243_*1225-240delinsATTC	ENSP00000507535.1:n.*1225-243_*1225-240delinsATTC
ENST00000682843.1:c.*1063-243_*1063-240delinsATTC	ENSP00000508173.1:n.*1063-243_*1063-240delinsATTC
ENST00000683003.1:c.*1016_*1019delinsATTC	ENSP00000507576.1:n.*1016_*1019delinsATTC
ENST00000683133.1:c.1606-243_1606-240delinsATTC	ENSP00000508108.1:n.1606-243_1606-240delinsATTC
ENST00000683243.1:c.*575-243_*575-240delinsATTC	ENSP00000507042.1:n.*575-243_*575-240delinsATTC
ENST00000683463.1:c.*668_*671delinsATTC	ENSP00000507986.1:n.*668_*671delinsATTC
ENST00000683548.1:n.1637_1640delinsATTC
ENST00000683579.1:c.*1320-243_*1320-240delinsATTC	ENSP00000506867.1:n.*1320-243_*1320-240delinsATTC
ENST00000683587.1:n.1710_1713delinsATTC
ENST00000683681.1:c.1422-17_1422-14delinsATTC	ENSP00000508110.1:n.1422-17_1422-14delinsATTC
ENST00000683735.1:c.*1577_*1580delinsATTC	ENSP00000508336.1:n.*1577_*1580delinsATTC
ENST00000683853.1:c.*227-243_*227-240delinsATTC	ENSP00000506834.1:n.*227-243_*227-240delinsATTC
ENST00000683860.1:c.*299_*302delinsATTC	ENSP00000507179.1:n.*299_*302delinsATTC
ENST00000683884.1:c.*506_*509delinsATTC	ENSP00000507004.1:n.*506_*509delinsATTC
ENST00000684041.1:c.*438_*441delinsATTC	ENSP00000508382.1:n.*438_*441delinsATTC
ENST00000684125.1:c.*82-243_*82-240delinsATTC	ENSP00000507320.1:n.*82-243_*82-240delinsATTC
ENST00000684203.1:n.3628_3631delinsATTC
ENST00000684231.1:c.*832-243_*832-240delinsATTC	ENSP00000507748.1:n.*832-243_*832-240delinsATTC
ENST00000684263.1:c.*803_*806delinsATTC	ENSP00000508369.1:n.*803_*806delinsATTC
ENST00000684305.1:c.1870-243_1870-240delinsATTC	ENSP00000506819.1:n.1870-243_1870-240delinsATTC
ENST00000684415.1:c.*730_*733delinsATTC	ENSP00000507227.1:n.*730_*733delinsATTC
ENST00000684520.1:c.*438_*441delinsATTC	ENSP00000506826.1:n.*438_*441delinsATTC
ENST00000684602.1:c.*1088-243_*1088-240delinsATTC	ENSP00000507996.1:n.*1088-243_*1088-240delinsATTC
ENST00000684667.1:c.1753-243_1753-240delinsATTC	ENSP00000507003.1:n.1753-243_1753-240delinsATTC
ENST00000268097.10:c.1422-243_1422-240delinsATTC MANE Select	ENSP00000268097.6:n.1422-243_1422-240delinsATTC
ENST00000268097.9:c.1422-243_1422-240delinsATTC	ENSP00000268097.5:n.1422-243_1422-240delinsATTC
ENST00000379915.4:c.504-243_504-240delinsATTC	ENSP00000478716.1:n.504-243_504-240delinsATTC
ENST00000564677.5:n.97_100delinsATTC
ENST00000565873.1:n.90_93delinsATTC
ENST00000566304.5:c.1455-243_1455-240delinsATTC	ENSP00000455114.1:n.1455-243_1455-240delinsATTC
ENST00000567027.5:c.1037-243_1037-240delinsATTC
ENST00000567159.5:c.1422-243_1422-240delinsATTC	ENSP00000456489.1:n.1422-243_1422-240delinsATTC
ENST00000567411.5:c.*943-243_*943-240delinsATTC	ENSP00000455545.1:n.*943-243_*943-240delinsATTC
ENST00000568777.5:n.6642-243_6642-240delinsATTC
ENST00000569116.1:n.12_15delinsATTC
NM_000520.4:c.1422-243_1422-240delinsATTC	NP_000511.2:n.1422-243_1422-240delinsATTC
NM_000520.5:c.1422-243_1422-240delinsATTC	NP_000511.2:n.1422-243_1422-240delinsATTC
NM_001318825.1:c.1455-243_1455-240delinsATTC	NP_001305754.1:n.1455-243_1455-240delinsATTC
NR_134869.1:n.1666-243_1666-240delinsATTC
NM_000520.6:c.1422-243_1422-240delinsATTC MANE Select	NP_000511.2:n.1422-243_1422-240delinsATTC
NM_001318825.2:c.1455-243_1455-240delinsATTC	NP_001305754.1:n.1455-243_1455-240delinsATTC
NR_134869.2:n.1207-243_1207-240delinsATTC
NR_134869.3:n.1207-243_1207-240delinsATTC