Canonical Allele Identifier: CA2186745326

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72350210_72350214delinsCTTCT , CM000677.2:g.72350210_72350214delinsCTTCT	GRCh38
NC_000015.9:g.72642551_72642555delinsCTTCT , CM000677.1:g.72642551_72642555delinsCTTCT	GRCh37
NC_000015.8:g.70429605_70429609delinsCTTCT	NCBI36
NG_009017.1:g.30966_30970delinsAGAAG
NG_009017.2:g.30966_30970delinsAGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3151+304_3151+308delinsAGAAG
ENST00000567027.6:c.805+304_805+308delinsAGAAG	ENSP00000457521.2:n.805+304_805+308delinsAGAAG
ENST00000682061.1:c.*467+304_*467+308delinsAGAAG	ENSP00000508316.1:n.*467+304_*467+308delinsAGAAG
ENST00000682177.1:c.848+304_848+308delinsAGAAG	ENSP00000507409.1:n.848+304_848+308delinsAGAAG
ENST00000682461.1:c.911+304_911+308delinsAGAAG	ENSP00000507308.1:n.911+304_911+308delinsAGAAG
ENST00000682653.1:n.836+304_836+308delinsAGAAG
ENST00000682657.1:c.*215+304_*215+308delinsAGAAG	ENSP00000507753.1:n.*215+304_*215+308delinsAGAAG
ENST00000682721.1:c.*608+304_*608+308delinsAGAAG	ENSP00000507535.1:n.*608+304_*608+308delinsAGAAG
ENST00000682843.1:c.*703+304_*703+308delinsAGAAG	ENSP00000508173.1:n.*703+304_*703+308delinsAGAAG
ENST00000683003.1:c.*215+304_*215+308delinsAGAAG	ENSP00000507576.1:n.*215+304_*215+308delinsAGAAG
ENST00000683133.1:c.989+304_989+308delinsAGAAG	ENSP00000508108.1:n.989+304_989+308delinsAGAAG
ENST00000683228.1:n.836+304_836+308delinsAGAAG
ENST00000683243.1:c.*215+304_*215+308delinsAGAAG	ENSP00000507042.1:n.*215+304_*215+308delinsAGAAG
ENST00000683463.1:c.805+304_805+308delinsAGAAG	ENSP00000507986.1:n.805+304_805+308delinsAGAAG
ENST00000683548.1:n.836+304_836+308delinsAGAAG
ENST00000683579.1:c.*703+304_*703+308delinsAGAAG	ENSP00000506867.1:n.*703+304_*703+308delinsAGAAG
ENST00000683587.1:n.836+304_836+308delinsAGAAG
ENST00000683681.1:c.805+304_805+308delinsAGAAG	ENSP00000508110.1:n.805+304_805+308delinsAGAAG
ENST00000683735.1:c.*703+304_*703+308delinsAGAAG	ENSP00000508336.1:n.*703+304_*703+308delinsAGAAG
ENST00000683742.1:n.636+304_636+308delinsAGAAG
ENST00000683853.1:c.805+304_805+308delinsAGAAG	ENSP00000506834.1:n.805+304_805+308delinsAGAAG
ENST00000683860.1:c.805+304_805+308delinsAGAAG	ENSP00000507179.1:n.805+304_805+308delinsAGAAG
ENST00000683884.1:c.805+304_805+308delinsAGAAG	ENSP00000507004.1:n.805+304_805+308delinsAGAAG
ENST00000684041.1:c.805+304_805+308delinsAGAAG	ENSP00000508382.1:n.805+304_805+308delinsAGAAG
ENST00000684125.1:c.805+304_805+308delinsAGAAG	ENSP00000507320.1:n.805+304_805+308delinsAGAAG
ENST00000684203.1:n.2643+304_2643+308delinsAGAAG
ENST00000684231.1:c.*215+304_*215+308delinsAGAAG	ENSP00000507748.1:n.*215+304_*215+308delinsAGAAG
ENST00000684263.1:c.805+304_805+308delinsAGAAG	ENSP00000508369.1:n.805+304_805+308delinsAGAAG
ENST00000684305.1:c.1253+304_1253+308delinsAGAAG	ENSP00000506819.1:n.1253+304_1253+308delinsAGAAG
ENST00000684415.1:c.805+304_805+308delinsAGAAG	ENSP00000507227.1:n.805+304_805+308delinsAGAAG
ENST00000684520.1:c.805+304_805+308delinsAGAAG	ENSP00000506826.1:n.805+304_805+308delinsAGAAG
ENST00000684602.1:c.*471+304_*471+308delinsAGAAG	ENSP00000507996.1:n.*471+304_*471+308delinsAGAAG
ENST00000684667.1:c.1136+304_1136+308delinsAGAAG	ENSP00000507003.1:n.1136+304_1136+308delinsAGAAG
ENST00000268097.10:c.805+304_805+308delinsAGAAG MANE Select	ENSP00000268097.6:n.805+304_805+308delinsAGAAG
ENST00000268097.9:c.805+304_805+308delinsAGAAG	ENSP00000268097.5:n.805+304_805+308delinsAGAAG
ENST00000379915.4:c.413-3889_413-3885delinsAGAAG	ENSP00000478716.1:n.413-3889_413-3885delinsAGAAG
ENST00000563762.5:c.738+304_738+308delinsAGAAG	ENSP00000456346.1:n.738+304_738+308delinsAGAAG
ENST00000566304.5:c.838+304_838+308delinsAGAAG	ENSP00000455114.1:n.838+304_838+308delinsAGAAG
ENST00000566672.5:c.*215+304_*215+308delinsAGAAG	ENSP00000457037.1:n.*215+304_*215+308delinsAGAAG
ENST00000567027.5:c.677+304_677+308delinsAGAAG
ENST00000567159.5:c.805+304_805+308delinsAGAAG	ENSP00000456489.1:n.805+304_805+308delinsAGAAG
ENST00000567411.5:c.*326+304_*326+308delinsAGAAG	ENSP00000455545.1:n.*326+304_*326+308delinsAGAAG
ENST00000568777.5:n.6209+304_6209+308delinsAGAAG
ENST00000569410.5:c.805+304_805+308delinsAGAAG	ENSP00000457125.1:n.805+304_805+308delinsAGAAG
NM_000520.4:c.805+304_805+308delinsAGAAG	NP_000511.2:n.805+304_805+308delinsAGAAG
NM_000520.5:c.805+304_805+308delinsAGAAG	NP_000511.2:n.805+304_805+308delinsAGAAG
NM_001318825.1:c.838+304_838+308delinsAGAAG	NP_001305754.1:n.838+304_838+308delinsAGAAG
NR_134869.1:n.1306+304_1306+308delinsAGAAG
NM_000520.6:c.805+304_805+308delinsAGAAG MANE Select	NP_000511.2:n.805+304_805+308delinsAGAAG
NM_001318825.2:c.838+304_838+308delinsAGAAG	NP_001305754.1:n.838+304_838+308delinsAGAAG
NR_134869.2:n.847+304_847+308delinsAGAAG
NR_134869.3:n.847+304_847+308delinsAGAAG