Canonical Allele Identifier: CA2186744425

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72348074_72348078delinsCTTGA , CM000677.2:g.72348074_72348078delinsCTTGA	GRCh38
NC_000015.9:g.72640415_72640419delinsCTTGA , CM000677.1:g.72640415_72640419delinsCTTGA	GRCh37
NC_000015.8:g.70427469_70427473delinsCTTGA	NCBI36
NG_009017.1:g.33102_33106delinsTCAAG
NG_009017.2:g.33102_33106delinsTCAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.3389_3393delinsTCAAG
ENST00000567027.6:c.1043_1047delinsTCAAG	ENSP00000457521.2:p.Phe348=
ENST00000682061.1:c.*705_*709delinsTCAAG	ENSP00000508316.1:n.*705_*709delinsTCAAG
ENST00000682177.1:c.1086_1090delinsTCAAG	ENSP00000507409.1:n.1086_1090delinsTCAAG
ENST00000682461.1:c.1149_1153delinsTCAAG	ENSP00000507308.1:n.1149_1153delinsTCAAG
ENST00000682653.1:n.1074_1078delinsTCAAG
ENST00000682657.1:c.*453_*457delinsTCAAG	ENSP00000507753.1:n.*453_*457delinsTCAAG
ENST00000682721.1:c.*846_*850delinsTCAAG	ENSP00000507535.1:n.*846_*850delinsTCAAG
ENST00000682843.1:c.*941_*945delinsTCAAG	ENSP00000508173.1:n.*941_*945delinsTCAAG
ENST00000683003.1:c.*453_*457delinsTCAAG	ENSP00000507576.1:n.*453_*457delinsTCAAG
ENST00000683133.1:c.1227_1231delinsTCAAG	ENSP00000508108.1:n.1227_1231delinsTCAAG
ENST00000683228.1:n.1074_1078delinsTCAAG
ENST00000683243.1:c.*453_*457delinsTCAAG	ENSP00000507042.1:n.*453_*457delinsTCAAG
ENST00000683463.1:c.1043_1047delinsTCAAG	ENSP00000507986.1:p.Phe348=
ENST00000683548.1:n.1074_1078delinsTCAAG
ENST00000683579.1:c.*941_*945delinsTCAAG	ENSP00000506867.1:n.*941_*945delinsTCAAG
ENST00000683587.1:n.1074_1078delinsTCAAG
ENST00000683681.1:c.1043_1047delinsTCAAG	ENSP00000508110.1:p.Phe348=
ENST00000683735.1:c.*941_*945delinsTCAAG	ENSP00000508336.1:n.*941_*945delinsTCAAG
ENST00000683742.1:n.874_878delinsTCAAG
ENST00000683853.1:c.1043_1047delinsTCAAG	ENSP00000506834.1:p.Phe348=
ENST00000683860.1:c.1043_1047delinsTCAAG	ENSP00000507179.1:p.Phe348=
ENST00000683884.1:c.1043_1047delinsTCAAG	ENSP00000507004.1:p.Phe348=
ENST00000684041.1:c.1043_1047delinsTCAAG	ENSP00000508382.1:p.Phe348=
ENST00000684125.1:c.1043_1047delinsTCAAG	ENSP00000507320.1:p.Phe348=
ENST00000684203.1:n.2881_2885delinsTCAAG
ENST00000684231.1:c.*453_*457delinsTCAAG	ENSP00000507748.1:n.*453_*457delinsTCAAG
ENST00000684263.1:c.1043_1047delinsTCAAG	ENSP00000508369.1:p.Phe348=
ENST00000684305.1:c.1491_1495delinsTCAAG	ENSP00000506819.1:n.1491_1495delinsTCAAG
ENST00000684415.1:c.1043_1047delinsTCAAG	ENSP00000507227.1:p.Phe348=
ENST00000684520.1:c.1043_1047delinsTCAAG	ENSP00000506826.1:p.Phe348=
ENST00000684602.1:c.*709_*713delinsTCAAG	ENSP00000507996.1:n.*709_*713delinsTCAAG
ENST00000684667.1:c.1374_1378delinsTCAAG	ENSP00000507003.1:n.1374_1378delinsTCAAG
ENST00000268097.10:c.1043_1047delinsTCAAG MANE Select	ENSP00000268097.6:p.Phe348=
ENST00000268097.9:c.1043_1047delinsTCAAG	ENSP00000268097.5:p.Phe348=
ENST00000379915.4:c.413-1753_413-1749delinsTCAAG	ENSP00000478716.1:n.413-1753_413-1749deli...
ENST00000563762.5:c.795_799delinsTCAAG	ENSP00000456346.1:n.795_799delinsTCAAG
ENST00000566304.5:c.1076_1080delinsTCAAG	ENSP00000455114.1:p.Phe359=
ENST00000566672.5:c.*453_*457delinsTCAAG	ENSP00000457037.1:n.*453_*457delinsTCAAG
ENST00000567027.5:c.915_919delinsTCAAG
ENST00000567159.5:c.1043_1047delinsTCAAG	ENSP00000456489.1:p.Phe348=
ENST00000567411.5:c.*564_*568delinsTCAAG	ENSP00000455545.1:n.*564_*568delinsTCAAG
ENST00000568777.5:n.6447_6451delinsTCAAG
ENST00000569410.5:c.1043_1047delinsTCAAG	ENSP00000457125.1:p.Phe348=
NM_000520.4:c.1043_1047delinsTCAAG	NP_000511.2:p.Phe348=
NM_000520.5:c.1043_1047delinsTCAAG	NP_000511.2:p.Phe348=
NM_001318825.1:c.1076_1080delinsTCAAG	NP_001305754.1:p.Phe359=
NR_134869.1:n.1544_1548delinsTCAAG
NM_000520.6:c.1043_1047delinsTCAAG MANE Select	NP_000511.2:p.Phe348=
NM_001318825.2:c.1076_1080delinsTCAAG	NP_001305754.1:p.Phe359=
NR_134869.2:n.1085_1089delinsTCAAG
NR_134869.3:n.1085_1089delinsTCAAG