Canonical Allele Identifier: CA277196060

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5072192dup , CM000678.2:g.5072192dup	GRCh38
NC_000016.9:g.5122193dup , CM000678.1:g.5122193dup	GRCh37
NC_000016.8:g.5062194dup	NCBI36
NG_009202.1:g.5384dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.215+135dup
ENST00000682020.1:c.-55-5253dup	ENSP00000508075.1:n.-55-5253dup
ENST00000682206.1:c.208+135dup	ENSP00000508285.1:n.208+135dup
ENST00000682314.1:n.252+135dup
ENST00000682327.1:c.-99-3196dup	ENSP00000507058.1:n.-99-3196dup
ENST00000682349.1:n.215+135dup
ENST00000682703.1:n.215+135dup
ENST00000682797.1:c.208+135dup	ENSP00000507582.1:n.208+135dup
ENST00000682985.1:c.-99-3196dup	ENSP00000507598.1:n.-99-3196dup
ENST00000683433.1:c.-55-5253dup	ENSP00000507463.1:n.-55-5253dup
ENST00000683685.1:n.252+135dup
ENST00000683710.1:c.208+135dup	ENSP00000506785.1:n.208+135dup
ENST00000683772.1:n.252+135dup
ENST00000684008.1:c.142+201dup	ENSP00000507962.1:n.142+201dup
ENST00000684190.1:c.208+135dup	ENSP00000507554.1:n.208+135dup
ENST00000684335.1:c.208+135dup	ENSP00000508112.1:n.208+135dup
ENST00000262374.10:c.208+135dup MANE Select	ENSP00000262374.5:n.208+135dup
ENST00000650085.1:n.1013-759dup
ENST00000262374.9:c.208+135dup	ENSP00000262374.4:n.208+135dup
ENST00000586840.1:c.208+135dup	ENSP00000467538.1:n.208+135dup
ENST00000588623.5:c.-125-759dup	ENSP00000468118.1:n.-125-759dup
ENST00000591822.5:c.*88dup	ENSP00000467865.1:n.*88dup
ENST00000592793.5:n.215+135dup
NM_019109.4:c.208+135dup	NP_061982.3:n.208+135dup
XR_932882.1:n.249+135dup
XM_017023457.2:c.208+135dup	XP_016878946.1:n.208+135dup
XM_017023458.1:c.-147dup	XP_016878947.1:n.-147dup
XR_932882.3:n.233+135dup
NM_019109.5:c.208+135dup MANE Select	NP_061982.3:n.208+135dup