Canonical Allele Identifier: CA2186743712

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346636_72346640delinsGACCA , CM000677.2:g.72346636_72346640delinsGACCA	GRCh38
NC_000015.9:g.72638977_72638981delinsGACCA , CM000677.1:g.72638977_72638981delinsGACCA	GRCh37
NC_000015.8:g.70426031_70426035delinsGACCA	NCBI36
NG_009017.1:g.34540_34544delinsTGGTC
NG_009017.2:g.34540_34544delinsTGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-315_1074-311delinsTGGTC	ENSP00000457521.2:n.1074-315_1074-311delinsTGGTC
ENST00000682061.1:c.*879_*883delinsTGGTC	ENSP00000508316.1:n.*879_*883delinsTGGTC
ENST00000682064.1:n.559_563delinsTGGTC
ENST00000682177.1:c.1260_1264delinsTGGTC	ENSP00000507409.1:n.1260_1264delinsTGGTC
ENST00000682235.1:n.556_560delinsTGGTC
ENST00000682461.1:c.1323_1327delinsTGGTC	ENSP00000507308.1:n.1323_1327delinsTGGTC
ENST00000682653.1:n.1537_1541delinsTGGTC
ENST00000682657.1:c.*484-315_*484-311delinsTGGTC	ENSP00000507753.1:n.*484-315_*484-311delinsTGGTC
ENST00000682721.1:c.*1020_*1024delinsTGGTC	ENSP00000507535.1:n.*1020_*1024delinsTGGTC
ENST00000682843.1:c.*972-315_*972-311delinsTGGTC	ENSP00000508173.1:n.*972-315_*972-311delinsTGGTC
ENST00000683003.1:c.*484-315_*484-311delinsTGGTC	ENSP00000507576.1:n.*484-315_*484-311delinsTGGTC
ENST00000683133.1:c.1401_1405delinsTGGTC	ENSP00000508108.1:n.1401_1405delinsTGGTC
ENST00000683243.1:c.*484-315_*484-311delinsTGGTC	ENSP00000507042.1:n.*484-315_*484-311delinsTGGTC
ENST00000683463.1:c.*22_*26delinsTGGTC	ENSP00000507986.1:n.*22_*26delinsTGGTC
ENST00000683548.1:n.1105-315_1105-311delinsTGGTC
ENST00000683579.1:c.*1115_*1119delinsTGGTC	ENSP00000506867.1:n.*1115_*1119delinsTGGTC
ENST00000683587.1:n.1178-315_1178-311delinsTGGTC
ENST00000683681.1:c.1217_1221delinsTGGTC	ENSP00000508110.1:p.Leu406=
ENST00000683735.1:c.*1045-315_*1045-311delinsTGGTC	ENSP00000508336.1:n.*1045-315_*1045-311delinsTGGTC
ENST00000683853.1:c.*22_*26delinsTGGTC	ENSP00000506834.1:n.*22_*26delinsTGGTC
ENST00000683860.1:c.1217_1221delinsTGGTC	ENSP00000507179.1:p.Leu406=
ENST00000683884.1:c.1147-315_1147-311delinsTGGTC	ENSP00000507004.1:n.1147-315_1147-311delinsTGGTC
ENST00000684041.1:c.1217_1221delinsTGGTC	ENSP00000508382.1:p.Leu406=
ENST00000684125.1:c.1074-315_1074-311delinsTGGTC	ENSP00000507320.1:n.1074-315_1074-311delinsTGGTC
ENST00000684203.1:n.2982_2986delinsTGGTC
ENST00000684231.1:c.*627_*631delinsTGGTC	ENSP00000507748.1:n.*627_*631delinsTGGTC
ENST00000684263.1:c.*157_*161delinsTGGTC	ENSP00000508369.1:n.*157_*161delinsTGGTC
ENST00000684305.1:c.1665_1669delinsTGGTC	ENSP00000506819.1:n.1665_1669delinsTGGTC
ENST00000684415.1:c.*84_*88delinsTGGTC	ENSP00000507227.1:n.*84_*88delinsTGGTC
ENST00000684520.1:c.1217_1221delinsTGGTC	ENSP00000506826.1:p.Leu406=
ENST00000684602.1:c.*883_*887delinsTGGTC	ENSP00000507996.1:n.*883_*887delinsTGGTC
ENST00000684667.1:c.1548_1552delinsTGGTC	ENSP00000507003.1:n.1548_1552delinsTGGTC
ENST00000268097.10:c.1217_1221delinsTGGTC MANE Select	ENSP00000268097.6:p.Leu406=
ENST00000268097.9:c.1217_1221delinsTGGTC	ENSP00000268097.5:p.Leu406=
ENST00000379915.4:c.413-315_413-311delinsTGGTC	ENSP00000478716.1:n.413-315_413-311delinsTGGTC
ENST00000563762.5:c.826-315_826-311delinsTGGTC	ENSP00000456346.1:n.826-315_826-311delinsTGGTC
ENST00000566304.5:c.1250_1254delinsTGGTC	ENSP00000455114.1:p.Leu417=
ENST00000566672.5:c.*627_*631delinsTGGTC	ENSP00000457037.1:n.*627_*631delinsTGGTC
ENST00000567027.5:c.946-315_946-311delinsTGGTC
ENST00000567159.5:c.1217_1221delinsTGGTC	ENSP00000456489.1:p.Leu406=
ENST00000567411.5:c.*738_*742delinsTGGTC	ENSP00000455545.1:n.*738_*742delinsTGGTC
ENST00000568777.5:n.6551-315_6551-311delinsTGGTC
ENST00000569410.5:c.*22_*26delinsTGGTC	ENSP00000457125.1:n.*22_*26delinsTGGTC
NM_000520.4:c.1217_1221delinsTGGTC	NP_000511.2:p.Leu406=
NM_000520.5:c.1217_1221delinsTGGTC	NP_000511.2:p.Leu406=
NM_001318825.1:c.1250_1254delinsTGGTC	NP_001305754.1:p.Leu417=
NR_134869.1:n.1575-315_1575-311delinsTGGTC
NM_000520.6:c.1217_1221delinsTGGTC MANE Select	NP_000511.2:p.Leu406=
NM_001318825.2:c.1250_1254delinsTGGTC	NP_001305754.1:p.Leu417=
NR_134869.2:n.1116-315_1116-311delinsTGGTC
NR_134869.3:n.1116-315_1116-311delinsTGGTC