Canonical Allele Identifier: CA2186743152

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345264_72345267delinsTTTG , CM000677.2:g.72345264_72345267delinsTTTG	GRCh38
NC_000015.9:g.72637605_72637608delinsTTTG , CM000677.1:g.72637605_72637608delinsTTTG	GRCh37
NC_000015.8:g.70424659_70424662delinsTTTG	NCBI36
NG_009017.1:g.35913_35916delinsCAAA
NG_009017.2:g.35913_35916delinsCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*365_*368delinsCAAA	ENSP00000457521.2:n.*365_*368delinsCAAA
ENST00000682061.1:c.*2051_*2054delinsCAAA	ENSP00000508316.1:n.*2051_*2054delinsCAAA
ENST00000682064.1:n.1753+179_1753+182delinsCAAA
ENST00000682177.1:c.1748_1751delinsCAAA	ENSP00000507409.1:n.1748_1751delinsCAAA
ENST00000682235.1:n.1549+179_1549+182delinsCAAA
ENST00000682461.1:c.1632+179_1632+182delinsCAAA	ENSP00000507308.1:n.1632+179_1632+182delinsCAAA
ENST00000682653.1:n.2709_2712delinsCAAA
ENST00000682657.1:c.*1542_*1545delinsCAAA	ENSP00000507753.1:n.*1542_*1545delinsCAAA
ENST00000682721.1:c.*1329+179_*1329+182delinsCAAA	ENSP00000507535.1:n.*1329+179_*1329+182delinsCAAA
ENST00000682843.1:c.*1167+179_*1167+182delinsCAAA	ENSP00000508173.1:n.*1167+179_*1167+182delinsCAAA
ENST00000683133.1:c.1710+179_1710+182delinsCAAA	ENSP00000508108.1:n.1710+179_1710+182delinsCAAA
ENST00000683243.1:c.*679+179_*679+182delinsCAAA	ENSP00000507042.1:n.*679+179_*679+182delinsCAAA
ENST00000683463.1:c.*1015+179_*1015+182delinsCAAA	ENSP00000507986.1:n.*1015+179_*1015+182delinsCAAA
ENST00000683548.1:n.1984+179_1984+182delinsCAAA
ENST00000683579.1:c.*1424+179_*1424+182delinsCAAA	ENSP00000506867.1:n.*1424+179_*1424+182delinsCAAA
ENST00000683587.1:n.2057+179_2057+182delinsCAAA
ENST00000683681.1:c.*204+179_*204+182delinsCAAA	ENSP00000508110.1:n.*204+179_*204+182delinsCAAA
ENST00000683735.1:c.*1924+179_*1924+182delinsCAAA	ENSP00000508336.1:n.*1924+179_*1924+182delinsCAAA
ENST00000683853.1:c.*510_*513delinsCAAA	ENSP00000506834.1:n.*510_*513delinsCAAA
ENST00000683860.1:c.*646+179_*646+182delinsCAAA	ENSP00000507179.1:n.*646+179_*646+182delinsCAAA
ENST00000684125.1:c.*186+179_*186+182delinsCAAA	ENSP00000507320.1:n.*186+179_*186+182delinsCAAA
ENST00000684203.1:n.3975+179_3975+182delinsCAAA
ENST00000684231.1:c.*936+179_*936+182delinsCAAA	ENSP00000507748.1:n.*936+179_*936+182delinsCAAA
ENST00000684263.1:c.*1150+179_*1150+182delinsCAAA	ENSP00000508369.1:n.*1150+179_*1150+182delinsCAAA
ENST00000684305.1:c.1974+179_1974+182delinsCAAA	ENSP00000506819.1:n.1974+179_1974+182delinsCAAA
ENST00000684415.1:c.*1256_*1259delinsCAAA	ENSP00000507227.1:n.*1256_*1259delinsCAAA
ENST00000684520.1:c.*964_*967delinsCAAA	ENSP00000506826.1:n.*964_*967delinsCAAA
ENST00000684602.1:c.*1192+179_*1192+182delinsCAAA	ENSP00000507996.1:n.*1192+179_*1192+182delinsCAAA
ENST00000684667.1:c.1857+179_1857+182delinsCAAA	ENSP00000507003.1:n.1857+179_1857+182delinsCAAA
ENST00000268097.10:c.1526+179_1526+182delinsCAAA MANE Select	ENSP00000268097.6:n.1526+179_1526+182delinsCAAA
ENST00000268097.9:c.1526+179_1526+182delinsCAAA	ENSP00000268097.5:n.1526+179_1526+182delinsCAAA
ENST00000379915.4:c.608+179_608+182delinsCAAA	ENSP00000478716.1:n.608+179_608+182delinsCAAA
ENST00000564677.5:n.318+179_318+182delinsCAAA
ENST00000565873.1:n.437+179_437+182delinsCAAA
ENST00000566304.5:c.1559+179_1559+182delinsCAAA	ENSP00000455114.1:n.1559+179_1559+182delinsCAAA
ENST00000567027.5:c.1320_1323delinsCAAA
ENST00000567411.5:c.*1047+179_*1047+182delinsCAAA	ENSP00000455545.1:n.*1047+179_*1047+182delinsCAAA
ENST00000569116.1:n.412_415delinsCAAA
NM_000520.4:c.1526+179_1526+182delinsCAAA	NP_000511.2:n.1526+179_1526+182delinsCAAA
NM_000520.5:c.1526+179_1526+182delinsCAAA	NP_000511.2:n.1526+179_1526+182delinsCAAA
NM_001318825.1:c.1559+179_1559+182delinsCAAA	NP_001305754.1:n.1559+179_1559+182delinsCAAA
NR_134869.1:n.1949_1952delinsCAAA
NM_000520.6:c.1526+179_1526+182delinsCAAA MANE Select	NP_000511.2:n.1526+179_1526+182delinsCAAA
NM_001318825.2:c.1559+179_1559+182delinsCAAA	NP_001305754.1:n.1559+179_1559+182delinsCAAA
NR_134869.2:n.1490_1493delinsCAAA
NR_134869.3:n.1490_1493delinsCAAA