Canonical Allele Identifier: CA2580613868
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2002210
ClinVar RCV Id: RCV002832926

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346611_72346612del , CM000677.2:g.72346611_72346612del GRCh38
NC_000015.9:g.72638952_72638953del , CM000677.1:g.72638952_72638953del GRCh37
NC_000015.8:g.70426006_70426007del NCBI36
NG_009017.1:g.34573_34574del
NG_009017.2:g.34573_34574del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1074-282_1074-281del ENSP00000457521.2:n.1074-282_1074-281del
ENST00000682061.1:c.*912_*913del ENSP00000508316.1:n.*912_*913del
ENST00000682064.1:n.592_593del
ENST00000682177.1:c.1293_1294del ENSP00000507409.1:n.1293_1294del
ENST00000682235.1:n.589_590del
ENST00000682461.1:c.1356_1357del ENSP00000507308.1:n.1356_1357del
ENST00000682653.1:n.1570_1571del
ENST00000682657.1:c.*484-282_*484-281del ENSP00000507753.1:n.*484-282_*484-281del
ENST00000682721.1:c.*1053_*1054del ENSP00000507535.1:n.*1053_*1054del
ENST00000682843.1:c.*972-282_*972-281del ENSP00000508173.1:n.*972-282_*972-281del
ENST00000683003.1:c.*484-282_*484-281del ENSP00000507576.1:n.*484-282_*484-281del
ENST00000683133.1:c.1434_1435del ENSP00000508108.1:n.1434_1435del
ENST00000683243.1:c.*484-282_*484-281del ENSP00000507042.1:n.*484-282_*484-281del
ENST00000683463.1:c.*55_*56del ENSP00000507986.1:n.*55_*56del
ENST00000683548.1:n.1105-282_1105-281del
ENST00000683579.1:c.*1148_*1149del ENSP00000506867.1:n.*1148_*1149del
ENST00000683587.1:n.1178-282_1178-281del
ENST00000683681.1:c.1250_1251del ENSP00000508110.1:p.Ser417CysfsTer13
ENST00000683735.1:c.*1045-282_*1045-281del ENSP00000508336.1:n.*1045-282_*1045-281del
ENST00000683853.1:c.*55_*56del ENSP00000506834.1:n.*55_*56del
ENST00000683860.1:c.1250_1251del ENSP00000507179.1:p.Ser417CysfsTer13
ENST00000683884.1:c.1147-282_1147-281del ENSP00000507004.1:n.1147-282_1147-281del
ENST00000684041.1:c.1250_1251del ENSP00000508382.1:p.Ser417CysfsTer13
ENST00000684125.1:c.1074-282_1074-281del ENSP00000507320.1:n.1074-282_1074-281del
ENST00000684203.1:n.3015_3016del
ENST00000684231.1:c.*660_*661del ENSP00000507748.1:n.*660_*661del
ENST00000684263.1:c.*190_*191del ENSP00000508369.1:n.*190_*191del
ENST00000684305.1:c.1698_1699del ENSP00000506819.1:n.1698_1699del
ENST00000684415.1:c.*117_*118del ENSP00000507227.1:n.*117_*118del
ENST00000684520.1:c.1250_1251del ENSP00000506826.1:p.Ser417CysfsTer13
ENST00000684602.1:c.*916_*917del ENSP00000507996.1:n.*916_*917del
ENST00000684667.1:c.1581_1582del ENSP00000507003.1:n.1581_1582del
ENST00000268097.10:c.1250_1251del MANE Select ENSP00000268097.6:p.Ser417CysfsTer13
ENST00000268097.9:c.1250_1251del ENSP00000268097.5:p.Ser417CysfsTer13
ENST00000379915.4:c.413-282_413-281del ENSP00000478716.1:n.413-282_413-281del
ENST00000563762.5:c.826-282_826-281del ENSP00000456346.1:n.826-282_826-281del
ENST00000566304.5:c.1283_1284del ENSP00000455114.1:p.Ser428CysfsTer13
ENST00000566672.5:c.*660_*661del ENSP00000457037.1:n.*660_*661del
ENST00000567027.5:c.946-282_946-281del
ENST00000567159.5:c.1250_1251del ENSP00000456489.1:p.Ser417CysfsTer13
ENST00000567411.5:c.*771_*772del ENSP00000455545.1:n.*771_*772del
ENST00000568777.5:n.6551-282_6551-281del
ENST00000569410.5:c.*55_*56del ENSP00000457125.1:n.*55_*56del
NM_000520.4:c.1250_1251del NP_000511.2:p.Ser417CysfsTer13
NM_000520.5:c.1250_1251del NP_000511.2:p.Ser417CysfsTer13
NM_001318825.1:c.1283_1284del NP_001305754.1:p.Ser428CysfsTer13
NR_134869.1:n.1575-282_1575-281del
NM_000520.6:c.1250_1251del MANE Select NP_000511.2:p.Ser417CysfsTer13
NM_001318825.2:c.1283_1284del NP_001305754.1:p.Ser428CysfsTer13
NR_134869.2:n.1116-282_1116-281del
NR_134869.3:n.1116-282_1116-281del