Canonical Allele Identifier: CA2186743048

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345023_72345025delinsGCA , CM000677.2:g.72345023_72345025delinsGCA	GRCh38
NC_000015.9:g.72637364_72637366delinsGCA , CM000677.1:g.72637364_72637366delinsGCA	GRCh37
NC_000015.8:g.70424418_70424420delinsGCA	NCBI36
NG_009017.1:g.36155_36157delinsTGC
NG_009017.2:g.36155_36157delinsTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.1753+421_1753+423delinsTGC
ENST00000682235.1:n.1549+421_1549+423delinsTGC
ENST00000682461.1:c.1632+421_1632+423delinsTGC	ENSP00000507308.1:n.1632+421_1632+423delinsTGC
ENST00000682653.1:n.2951_2953delinsTGC
ENST00000682721.1:c.*1329+421_*1329+423delinsTGC	ENSP00000507535.1:n.*1329+421_*1329+423delinsTGC
ENST00000682843.1:c.*1167+421_*1167+423delinsTGC	ENSP00000508173.1:n.*1167+421_*1167+423delinsTGC
ENST00000683133.1:c.1710+421_1710+423delinsTGC	ENSP00000508108.1:n.1710+421_1710+423delinsTGC
ENST00000683243.1:c.*679+421_*679+423delinsTGC	ENSP00000507042.1:n.*679+421_*679+423delinsTGC
ENST00000683463.1:c.*1015+421_*1015+423delinsTGC	ENSP00000507986.1:n.*1015+421_*1015+423delinsTGC
ENST00000683548.1:n.1984+421_1984+423delinsTGC
ENST00000683579.1:c.*1424+421_*1424+423delinsTGC	ENSP00000506867.1:n.*1424+421_*1424+423delinsTGC
ENST00000683587.1:n.2057+421_2057+423delinsTGC
ENST00000683681.1:c.*204+421_*204+423delinsTGC	ENSP00000508110.1:n.*204+421_*204+423delinsTGC
ENST00000683735.1:c.*1924+421_*1924+423delinsTGC	ENSP00000508336.1:n.*1924+421_*1924+423delinsTGC
ENST00000683853.1:c.*752_*754delinsTGC	ENSP00000506834.1:n.*752_*754delinsTGC
ENST00000683860.1:c.*646+421_*646+423delinsTGC	ENSP00000507179.1:n.*646+421_*646+423delinsTGC
ENST00000684125.1:c.*186+421_*186+423delinsTGC	ENSP00000507320.1:n.*186+421_*186+423delinsTGC
ENST00000684203.1:n.3975+421_3975+423delinsTGC
ENST00000684231.1:c.*936+421_*936+423delinsTGC	ENSP00000507748.1:n.*936+421_*936+423delinsTGC
ENST00000684263.1:c.*1150+421_*1150+423delinsTGC	ENSP00000508369.1:n.*1150+421_*1150+423delinsTGC
ENST00000684305.1:c.1974+421_1974+423delinsTGC	ENSP00000506819.1:n.1974+421_1974+423delinsTGC
ENST00000684602.1:c.*1192+421_*1192+423delinsTGC	ENSP00000507996.1:n.*1192+421_*1192+423delinsTGC
ENST00000684667.1:c.1857+421_1857+423delinsTGC	ENSP00000507003.1:n.1857+421_1857+423delinsTGC
ENST00000268097.10:c.1526+421_1526+423delinsTGC MANE Select	ENSP00000268097.6:n.1526+421_1526+423delinsTGC
ENST00000268097.9:c.1526+421_1526+423delinsTGC	ENSP00000268097.5:n.1526+421_1526+423delinsTGC
ENST00000379915.4:c.608+421_608+423delinsTGC	ENSP00000478716.1:n.608+421_608+423delinsTGC
ENST00000564677.5:n.318+421_318+423delinsTGC
ENST00000565873.1:n.437+421_437+423delinsTGC
ENST00000566304.5:c.1559+421_1559+423delinsTGC	ENSP00000455114.1:n.1559+421_1559+423delinsTGC
ENST00000567411.5:c.*1047+421_*1047+423delinsTGC	ENSP00000455545.1:n.*1047+421_*1047+423delinsTGC
NM_000520.4:c.1526+421_1526+423delinsTGC	NP_000511.2:n.1526+421_1526+423delinsTGC
NM_000520.5:c.1526+421_1526+423delinsTGC	NP_000511.2:n.1526+421_1526+423delinsTGC
NM_001318825.1:c.1559+421_1559+423delinsTGC	NP_001305754.1:n.1559+421_1559+423delinsTGC
NM_000520.6:c.1526+421_1526+423delinsTGC MANE Select	NP_000511.2:n.1526+421_1526+423delinsTGC
NM_001318825.2:c.1559+421_1559+423delinsTGC	NP_001305754.1:n.1559+421_1559+423delinsTGC