Canonical Allele Identifier: CA618766071

Gene: HEXA

Linked Data

• dbSNP Id: rs1441569527
• gnomAD v2: 15-72637270-C-CA
• gnomAD v3: 15-72344929-C-CA
• gnomAD v4: 15-72344929-C-CA
• MyVariant Identifiers: chr15:g.72637270_72637271insA (hg19) ; chr15:g.72344929_72344930insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72344929_72344930insA , CM000677.2:g.72344929_72344930insA	GRCh38
NC_000015.9:g.72637270_72637271insA , CM000677.1:g.72637270_72637271insA	GRCh37
NC_000015.8:g.70424324_70424325insA	NCBI36
NG_009017.1:g.36250_36251insT
NG_009017.2:g.36250_36251insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.1753+516_1753+517insT
ENST00000682235.1:n.1549+516_1549+517insT
ENST00000682461.1:c.1632+516_1632+517insT	ENSP00000507308.1:n.1632+516_1632+517insT
ENST00000682653.1:n.3046_3047insT
ENST00000682721.1:c.*1329+516_*1329+517insT	ENSP00000507535.1:n.*1329+516_*1329+517insT
ENST00000682843.1:c.*1167+516_*1167+517insT	ENSP00000508173.1:n.*1167+516_*1167+517insT
ENST00000683133.1:c.1710+516_1710+517insT	ENSP00000508108.1:n.1710+516_1710+517insT
ENST00000683243.1:c.*679+516_*679+517insT	ENSP00000507042.1:n.*679+516_*679+517insT
ENST00000683463.1:c.*1015+516_*1015+517insT	ENSP00000507986.1:n.*1015+516_*1015+517insT
ENST00000683548.1:n.1984+516_1984+517insT
ENST00000683579.1:c.*1424+516_*1424+517insT	ENSP00000506867.1:n.*1424+516_*1424+517insT
ENST00000683587.1:n.2057+516_2057+517insT
ENST00000683681.1:c.*204+516_*204+517insT	ENSP00000508110.1:n.*204+516_*204+517insT
ENST00000683735.1:c.*1924+516_*1924+517insT	ENSP00000508336.1:n.*1924+516_*1924+517insT
ENST00000683853.1:c.*847_*848insT	ENSP00000506834.1:n.*847_*848insT
ENST00000683860.1:c.*646+516_*646+517insT	ENSP00000507179.1:n.*646+516_*646+517insT
ENST00000684125.1:c.*186+516_*186+517insT	ENSP00000507320.1:n.*186+516_*186+517insT
ENST00000684203.1:n.3975+516_3975+517insT
ENST00000684231.1:c.*936+516_*936+517insT	ENSP00000507748.1:n.*936+516_*936+517insT
ENST00000684263.1:c.*1150+516_*1150+517insT	ENSP00000508369.1:n.*1150+516_*1150+517insT
ENST00000684305.1:c.1974+516_1974+517insT	ENSP00000506819.1:n.1974+516_1974+517insT
ENST00000684602.1:c.*1192+516_*1192+517insT	ENSP00000507996.1:n.*1192+516_*1192+517insT
ENST00000684667.1:c.1857+516_1857+517insT	ENSP00000507003.1:n.1857+516_1857+517insT
ENST00000268097.10:c.1526+516_1526+517insT MANE Select	ENSP00000268097.6:n.1526+516_1526+517insT
ENST00000268097.9:c.1526+516_1526+517insT	ENSP00000268097.5:n.1526+516_1526+517insT
ENST00000379915.4:c.608+516_608+517insT	ENSP00000478716.1:n.608+516_608+517insT
ENST00000564677.5:n.318+516_318+517insT
ENST00000565873.1:n.437+516_437+517insT
ENST00000566304.5:c.1559+516_1559+517insT	ENSP00000455114.1:n.1559+516_1559+517insT
ENST00000567411.5:c.*1047+516_*1047+517insT	ENSP00000455545.1:n.*1047+516_*1047+517insT
NM_000520.4:c.1526+516_1526+517insT	NP_000511.2:n.1526+516_1526+517insT
NM_000520.5:c.1526+516_1526+517insT	NP_000511.2:n.1526+516_1526+517insT
NM_001318825.1:c.1559+516_1559+517insT	NP_001305754.1:n.1559+516_1559+517insT
NM_000520.6:c.1526+516_1526+517insT MANE Select	NP_000511.2:n.1526+516_1526+517insT
NM_001318825.2:c.1559+516_1559+517insT	NP_001305754.1:n.1559+516_1559+517insT