Canonical Allele Identifier: CA2186743718
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346648_72346661delinsCTCCTTCATATAGT , CM000677.2:g.72346648_72346661delinsCTCCTTCATATAGT GRCh38
NC_000015.9:g.72638989_72639002delinsCTCCTTCATATAGT , CM000677.1:g.72638989_72639002delinsCTCCTTCATATAGT GRCh37
NC_000015.8:g.70426043_70426056delinsCTCCTTCATATAGT NCBI36
NG_009017.1:g.34519_34532delinsACTATATGAAGGAG
NG_009017.2:g.34519_34532delinsACTATATGAAGGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1074-336_1074-323delinsACTATATGAAGGAG ENSP00000457521.2:n.1074-336_1074-323delinsACTATATGAAGGAG
ENST00000682061.1:c.*858_*871delinsACTATATGAAGGAG ENSP00000508316.1:n.*858_*871delinsACTATATGAAGGAG
ENST00000682064.1:n.538_551delinsACTATATGAAGGAG
ENST00000682177.1:c.1239_1252delinsACTATATGAAGGAG ENSP00000507409.1:n.1239_1252delinsACTATATGAAGGAG
ENST00000682235.1:n.535_548delinsACTATATGAAGGAG
ENST00000682461.1:c.1302_1315delinsACTATATGAAGGAG ENSP00000507308.1:n.1302_1315delinsACTATATGAAGGAG
ENST00000682653.1:n.1516_1529delinsACTATATGAAGGAG
ENST00000682657.1:c.*484-336_*484-323delinsACTATATGAAGGAG ENSP00000507753.1:n.*484-336_*484-323delinsACTATATGAAGGAG
ENST00000682721.1:c.*999_*1012delinsACTATATGAAGGAG ENSP00000507535.1:n.*999_*1012delinsACTATATGAAGGAG
ENST00000682843.1:c.*972-336_*972-323delinsACTATATGAAGGAG ENSP00000508173.1:n.*972-336_*972-323delinsACTATATGAAGGAG
ENST00000683003.1:c.*484-336_*484-323delinsACTATATGAAGGAG ENSP00000507576.1:n.*484-336_*484-323delinsACTATATGAAGGAG
ENST00000683133.1:c.1380_1393delinsACTATATGAAGGAG ENSP00000508108.1:n.1380_1393delinsACTATATGAAGGAG
ENST00000683243.1:c.*484-336_*484-323delinsACTATATGAAGGAG ENSP00000507042.1:n.*484-336_*484-323delinsACTATATGAAGGAG
ENST00000683463.1:c.*1_*14delinsACTATATGAAGGAG ENSP00000507986.1:n.*1_*14delinsACTATATGAAGGAG
ENST00000683548.1:n.1105-336_1105-323delinsACTATATGAAGGAG
ENST00000683579.1:c.*1094_*1107delinsACTATATGAAGGAG ENSP00000506867.1:n.*1094_*1107delinsACTATATGAAGGAG
ENST00000683587.1:n.1178-336_1178-323delinsACTATATGAAGGAG
ENST00000683681.1:c.1196_1209delinsACTATATGAAGGAG ENSP00000508110.1:p.Asn399=
ENST00000683735.1:c.*1045-336_*1045-323delinsACTATATGAAGGAG ENSP00000508336.1:n.*1045-336_*1045-323delinsACTATATGAAGGAG
ENST00000683853.1:c.*1_*14delinsACTATATGAAGGAG ENSP00000506834.1:n.*1_*14delinsACTATATGAAGGAG
ENST00000683860.1:c.1196_1209delinsACTATATGAAGGAG ENSP00000507179.1:p.Asn399=
ENST00000683884.1:c.1147-336_1147-323delinsACTATATGAAGGAG ENSP00000507004.1:n.1147-336_1147-323delinsACTATATGAAGGAG
ENST00000684041.1:c.1196_1209delinsACTATATGAAGGAG ENSP00000508382.1:p.Asn399=
ENST00000684125.1:c.1074-336_1074-323delinsACTATATGAAGGAG ENSP00000507320.1:n.1074-336_1074-323delinsACTATATGAAGGAG
ENST00000684203.1:n.2961_2974delinsACTATATGAAGGAG
ENST00000684231.1:c.*606_*619delinsACTATATGAAGGAG ENSP00000507748.1:n.*606_*619delinsACTATATGAAGGAG
ENST00000684263.1:c.*136_*149delinsACTATATGAAGGAG ENSP00000508369.1:n.*136_*149delinsACTATATGAAGGAG
ENST00000684305.1:c.1644_1657delinsACTATATGAAGGAG ENSP00000506819.1:n.1644_1657delinsACTATATGAAGGAG
ENST00000684415.1:c.*63_*76delinsACTATATGAAGGAG ENSP00000507227.1:n.*63_*76delinsACTATATGAAGGAG
ENST00000684520.1:c.1196_1209delinsACTATATGAAGGAG ENSP00000506826.1:p.Asn399=
ENST00000684602.1:c.*862_*875delinsACTATATGAAGGAG ENSP00000507996.1:n.*862_*875delinsACTATATGAAGGAG
ENST00000684667.1:c.1527_1540delinsACTATATGAAGGAG ENSP00000507003.1:n.1527_1540delinsACTATATGAAGGAG
ENST00000268097.10:c.1196_1209delinsACTATATGAAGGAG MANE Select ENSP00000268097.6:p.Asn399=
ENST00000268097.9:c.1196_1209delinsACTATATGAAGGAG ENSP00000268097.5:p.Asn399=
ENST00000379915.4:c.413-336_413-323delinsACTATATGAAGGAG ENSP00000478716.1:n.413-336_413-323delinsACTATATGAAGGAG
ENST00000563762.5:c.826-336_826-323delinsACTATATGAAGGAG ENSP00000456346.1:n.826-336_826-323delinsACTATATGAAGGAG
ENST00000566304.5:c.1229_1242delinsACTATATGAAGGAG ENSP00000455114.1:p.Asn410=
ENST00000566672.5:c.*606_*619delinsACTATATGAAGGAG ENSP00000457037.1:n.*606_*619delinsACTATATGAAGGAG
ENST00000567027.5:c.946-336_946-323delinsACTATATGAAGGAG
ENST00000567159.5:c.1196_1209delinsACTATATGAAGGAG ENSP00000456489.1:p.Asn399=
ENST00000567411.5:c.*717_*730delinsACTATATGAAGGAG ENSP00000455545.1:n.*717_*730delinsACTATATGAAGGAG
ENST00000568777.5:n.6551-336_6551-323delinsACTATATGAAGGAG
ENST00000569410.5:c.*1_*14delinsACTATATGAAGGAG ENSP00000457125.1:n.*1_*14delinsACTATATGAAGGAG
NM_000520.4:c.1196_1209delinsACTATATGAAGGAG NP_000511.2:p.Asn399=
NM_000520.5:c.1196_1209delinsACTATATGAAGGAG NP_000511.2:p.Asn399=
NM_001318825.1:c.1229_1242delinsACTATATGAAGGAG NP_001305754.1:p.Asn410=
NR_134869.1:n.1575-336_1575-323delinsACTATATGAAGGAG
NM_000520.6:c.1196_1209delinsACTATATGAAGGAG MANE Select NP_000511.2:p.Asn399=
NM_001318825.2:c.1229_1242delinsACTATATGAAGGAG NP_001305754.1:p.Asn410=
NR_134869.2:n.1116-336_1116-323delinsACTATATGAAGGAG
NR_134869.3:n.1116-336_1116-323delinsACTATATGAAGGAG