Canonical Allele Identifier: CA912992688

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638991_72638994del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346651_72346654del , CM000677.2:g.72346651_72346654del	GRCh38
NC_000015.9:g.72638992_72638995del , CM000677.1:g.72638992_72638995del	GRCh37
NC_000015.8:g.70426046_70426049del	NCBI36
NG_009017.1:g.34528_34531del
NG_009017.2:g.34528_34531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-327_1074-324del	ENSP00000457521.2:n.1074-327_1074-324del
ENST00000682061.1:c.*867_*870del	ENSP00000508316.1:n.*867_*870del
ENST00000682064.1:n.547_550del
ENST00000682177.1:c.1248_1251del	ENSP00000507409.1:n.1248_1251del
ENST00000682235.1:n.544_547del
ENST00000682461.1:c.1311_1314del	ENSP00000507308.1:n.1311_1314del
ENST00000682653.1:n.1525_1528del
ENST00000682657.1:c.*484-327_*484-324del	ENSP00000507753.1:n.*484-327_*484-324del
ENST00000682721.1:c.*1008_*1011del	ENSP00000507535.1:n.*1008_*1011del
ENST00000682843.1:c.*972-327_*972-324del	ENSP00000508173.1:n.*972-327_*972-324del
ENST00000683003.1:c.*484-327_*484-324del	ENSP00000507576.1:n.*484-327_*484-324del
ENST00000683133.1:c.1389_1392del	ENSP00000508108.1:n.1389_1392del
ENST00000683243.1:c.*484-327_*484-324del	ENSP00000507042.1:n.*484-327_*484-324del
ENST00000683463.1:c.*10_*13del	ENSP00000507986.1:n.*10_*13del
ENST00000683548.1:n.1105-327_1105-324del
ENST00000683579.1:c.*1103_*1106del	ENSP00000506867.1:n.*1103_*1106del
ENST00000683587.1:n.1178-327_1178-324del
ENST00000683681.1:c.1205_1208del	ENSP00000508110.1:p.Lys402SerfsTer20
ENST00000683735.1:c.*1045-327_*1045-324del	ENSP00000508336.1:n.*1045-327_*1045-324del
ENST00000683853.1:c.*10_*13del	ENSP00000506834.1:n.*10_*13del
ENST00000683860.1:c.1205_1208del	ENSP00000507179.1:p.Lys402SerfsTer20
ENST00000683884.1:c.1147-327_1147-324del	ENSP00000507004.1:n.1147-327_1147-324del
ENST00000684041.1:c.1205_1208del	ENSP00000508382.1:p.Lys402SerfsTer20
ENST00000684125.1:c.1074-327_1074-324del	ENSP00000507320.1:n.1074-327_1074-324del
ENST00000684203.1:n.2970_2973del
ENST00000684231.1:c.*615_*618del	ENSP00000507748.1:n.*615_*618del
ENST00000684263.1:c.*145_*148del	ENSP00000508369.1:n.*145_*148del
ENST00000684305.1:c.1653_1656del	ENSP00000506819.1:n.1653_1656del
ENST00000684415.1:c.*72_*75del	ENSP00000507227.1:n.*72_*75del
ENST00000684520.1:c.1205_1208del	ENSP00000506826.1:p.Lys402SerfsTer20
ENST00000684602.1:c.*871_*874del	ENSP00000507996.1:n.*871_*874del
ENST00000684667.1:c.1536_1539del	ENSP00000507003.1:n.1536_1539del
ENST00000268097.10:c.1205_1208del MANE Select	ENSP00000268097.6:p.Lys402SerfsTer20
ENST00000268097.9:c.1205_1208del	ENSP00000268097.5:p.Lys402SerfsTer20
ENST00000379915.4:c.413-327_413-324del	ENSP00000478716.1:n.413-327_413-324del
ENST00000563762.5:c.826-327_826-324del	ENSP00000456346.1:n.826-327_826-324del
ENST00000566304.5:c.1238_1241del	ENSP00000455114.1:p.Lys413SerfsTer20
ENST00000566672.5:c.*615_*618del	ENSP00000457037.1:n.*615_*618del
ENST00000567027.5:c.946-327_946-324del
ENST00000567159.5:c.1205_1208del	ENSP00000456489.1:p.Lys402SerfsTer20
ENST00000567411.5:c.*726_*729del	ENSP00000455545.1:n.*726_*729del
ENST00000568777.5:n.6551-327_6551-324del
ENST00000569410.5:c.*10_*13del	ENSP00000457125.1:n.*10_*13del
NM_000520.4:c.1205_1208del	NP_000511.2:p.Lys402SerfsTer20
NM_000520.5:c.1205_1208del	NP_000511.2:p.Lys402SerfsTer20
NM_001318825.1:c.1238_1241del	NP_001305754.1:p.Lys413SerfsTer20
NR_134869.1:n.1575-327_1575-324del
NM_000520.6:c.1205_1208del MANE Select	NP_000511.2:p.Lys402SerfsTer20
NM_001318825.2:c.1238_1241del	NP_001305754.1:p.Lys413SerfsTer20
NR_134869.2:n.1116-327_1116-324del
NR_134869.3:n.1116-327_1116-324del