Canonical Allele Identifier: CA971350754

Gene: HEXA

Linked Data

• dbSNP Id: rs2088605160
• gnomAD v3: 15-72345790-GAAT-G
• gnomAD v4: 15-72345790-GAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345793_72345795del , CM000677.2:g.72345793_72345795del	GRCh38
NC_000015.9:g.72638134_72638136del , CM000677.1:g.72638134_72638136del	GRCh37
NC_000015.8:g.70425188_70425190del	NCBI36
NG_009017.1:g.35387_35389del
NG_009017.2:g.35387_35389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-243_*82-241del	ENSP00000457521.2:n.*82-243_*82-241del
ENST00000682061.1:c.*1525_*1527del	ENSP00000508316.1:n.*1525_*1527del
ENST00000682064.1:n.1406_1408del
ENST00000682177.1:c.1465-243_1465-241del	ENSP00000507409.1:n.1465-243_1465-241del
ENST00000682235.1:n.1202_1204del
ENST00000682461.1:c.1528-243_1528-241del	ENSP00000507308.1:n.1528-243_1528-241del
ENST00000682653.1:n.2183_2185del
ENST00000682657.1:c.*1016_*1018del	ENSP00000507753.1:n.*1016_*1018del
ENST00000682721.1:c.*1225-243_*1225-241del	ENSP00000507535.1:n.*1225-243_*1225-241del
ENST00000682843.1:c.*1063-243_*1063-241del	ENSP00000508173.1:n.*1063-243_*1063-241del
ENST00000683003.1:c.*1016_*1018del	ENSP00000507576.1:n.*1016_*1018del
ENST00000683133.1:c.1606-243_1606-241del	ENSP00000508108.1:n.1606-243_1606-241del
ENST00000683243.1:c.*575-243_*575-241del	ENSP00000507042.1:n.*575-243_*575-241del
ENST00000683463.1:c.*668_*670del	ENSP00000507986.1:n.*668_*670del
ENST00000683548.1:n.1637_1639del
ENST00000683579.1:c.*1320-243_*1320-241del	ENSP00000506867.1:n.*1320-243_*1320-241del
ENST00000683587.1:n.1710_1712del
ENST00000683681.1:c.1422-17_1422-15del	ENSP00000508110.1:n.1422-17_1422-15del
ENST00000683735.1:c.*1577_*1579del	ENSP00000508336.1:n.*1577_*1579del
ENST00000683853.1:c.*227-243_*227-241del	ENSP00000506834.1:n.*227-243_*227-241del
ENST00000683860.1:c.*299_*301del	ENSP00000507179.1:n.*299_*301del
ENST00000683884.1:c.*506_*508del	ENSP00000507004.1:n.*506_*508del
ENST00000684041.1:c.*438_*440del	ENSP00000508382.1:n.*438_*440del
ENST00000684125.1:c.*82-243_*82-241del	ENSP00000507320.1:n.*82-243_*82-241del
ENST00000684203.1:n.3628_3630del
ENST00000684231.1:c.*832-243_*832-241del	ENSP00000507748.1:n.*832-243_*832-241del
ENST00000684263.1:c.*803_*805del	ENSP00000508369.1:n.*803_*805del
ENST00000684305.1:c.1870-243_1870-241del	ENSP00000506819.1:n.1870-243_1870-241del
ENST00000684415.1:c.*730_*732del	ENSP00000507227.1:n.*730_*732del
ENST00000684520.1:c.*438_*440del	ENSP00000506826.1:n.*438_*440del
ENST00000684602.1:c.*1088-243_*1088-241del	ENSP00000507996.1:n.*1088-243_*1088-241del
ENST00000684667.1:c.1753-243_1753-241del	ENSP00000507003.1:n.1753-243_1753-241del
ENST00000268097.10:c.1422-243_1422-241del MANE Select	ENSP00000268097.6:n.1422-243_1422-241del
ENST00000268097.9:c.1422-243_1422-241del	ENSP00000268097.5:n.1422-243_1422-241del
ENST00000379915.4:c.504-243_504-241del	ENSP00000478716.1:n.504-243_504-241del
ENST00000564677.5:n.97_99del
ENST00000565873.1:n.90_92del
ENST00000566304.5:c.1455-243_1455-241del	ENSP00000455114.1:n.1455-243_1455-241del
ENST00000567027.5:c.1037-243_1037-241del
ENST00000567159.5:c.1422-243_1422-241del	ENSP00000456489.1:n.1422-243_1422-241del
ENST00000567411.5:c.*943-243_*943-241del	ENSP00000455545.1:n.*943-243_*943-241del
ENST00000568777.5:n.6642-243_6642-241del
ENST00000569116.1:n.12_14del
NM_000520.4:c.1422-243_1422-241del	NP_000511.2:n.1422-243_1422-241del
NM_000520.5:c.1422-243_1422-241del	NP_000511.2:n.1422-243_1422-241del
NM_001318825.1:c.1455-243_1455-241del	NP_001305754.1:n.1455-243_1455-241del
NR_134869.1:n.1666-243_1666-241del
NM_000520.6:c.1422-243_1422-241del MANE Select	NP_000511.2:n.1422-243_1422-241del
NM_001318825.2:c.1455-243_1455-241del	NP_001305754.1:n.1455-243_1455-241del
NR_134869.2:n.1207-243_1207-241del
NR_134869.3:n.1207-243_1207-241del