Canonical Allele Identifier: CA2631591341

Gene: ALG1

Linked Data

• gnomAD v4: 16-5081095-G-GAGGGGGGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5081096_5081097insGGGGGGGGAA , CM000678.2:g.5081096_5081097insGGGGGGGGAA	GRCh38
NC_000016.9:g.5131097_5131098insGGGGGGGGAA , CM000678.1:g.5131097_5131098insGGGGGGGGAA	GRCh37
NC_000016.8:g.5071098_5071099insGGGGGGGGAA	NCBI36
NG_009202.1:g.14288_14289insGGGGGGGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3208+40_3208+41insGGGGGGGGAA
ENST00000682020.1:c.478+40_478+41insGGGGGGGGAA	ENSP00000508075.1:n.478+40_478+41insGGGGGGGGAA
ENST00000682206.1:c.*164+40_*164+41insGGGGGGGGAA	ENSP00000508285.1:n.*164+40_*164+41insGGGGGGGGAA
ENST00000682314.1:n.1120+40_1120+41insGGGGGGGGAA
ENST00000682327.1:c.544+40_544+41insGGGGGGGGAA	ENSP00000507058.1:n.544+40_544+41insGGGGGGGGAA
ENST00000682349.1:n.3214+40_3214+41insGGGGGGGGAA
ENST00000682703.1:n.4040+40_4040+41insGGGGGGGGAA
ENST00000682797.1:c.*164+40_*164+41insGGGGGGGGAA	ENSP00000507582.1:n.*164+40_*164+41insGGGGGGGGAA
ENST00000682985.1:c.583+40_583+41insGGGGGGGGAA	ENSP00000507598.1:n.583+40_583+41insGGGGGGGGAA
ENST00000683433.1:c.328+40_328+41insGGGGGGGGAA	ENSP00000507463.1:n.328+40_328+41insGGGGGGGGAA
ENST00000683685.1:n.1946+40_1946+41insGGGGGGGGAA
ENST00000683710.1:c.*1039+40_*1039+41insGGGGGGGGAA	ENSP00000506785.1:n.*1039+40_*1039+41insGGGGGGGGAA
ENST00000683739.1:c.739+40_739+41insGGGGGGGGAA	ENSP00000507002.1:n.739+40_739+41insGGGGGGGGAA
ENST00000683772.1:n.1116+40_1116+41insGGGGGGGGAA
ENST00000684008.1:c.1010+40_1010+41insGGGGGGGGAA	ENSP00000507962.1:n.1010+40_1010+41insGGGGGGGGAA
ENST00000684190.1:c.1033+40_1033+41insGGGGGGGGAA	ENSP00000507554.1:n.1033+40_1033+41insGGGGGGGGAA
ENST00000684335.1:c.961+1289_961+1290insGGGGGGGGAA	ENSP00000508112.1:n.961+1289_961+1290insGGGGGGGGAA
ENST00000262374.10:c.1072+40_1072+41insGGGGGGGGAA MANE Select	ENSP00000262374.5:n.1072+40_1072+41insGGGGGGGGAA
ENST00000650085.1:n.1896+40_1896+41insGGGGGGGGAA
ENST00000262374.9:c.1072+40_1072+41insGGGGGGGGAA	ENSP00000262374.4:n.1072+40_1072+41insGGGGGGGGAA
ENST00000544428.1:c.739+40_739+41insGGGGGGGGAA	ENSP00000440019.1:n.739+40_739+41insGGGGGGGGAA
ENST00000588623.5:c.739+40_739+41insGGGGGGGGAA	ENSP00000468118.1:n.739+40_739+41insGGGGGGGGAA
ENST00000591822.5:c.*973+40_*973+41insGGGGGGGGAA	ENSP00000467865.1:n.*973+40_*973+41insGGGGGGGGAA
NM_019109.4:c.1072+40_1072+41insGGGGGGGGAA	NP_061982.3:n.1072+40_1072+41insGGGGGGGGAA
XM_011522565.1:c.739+40_739+41insGGGGGGGGAA	XP_011520867.1:n.739+40_739+41insGGGGGGGGAA
NM_001330504.1:c.739+40_739+41insGGGGGGGGAA	NP_001317433.1:n.739+40_739+41insGGGGGGGGAA
XM_017023457.2:c.1033+40_1033+41insGGGGGGGGAA	XP_016878946.1:n.1033+40_1033+41insGGGGGGGGAA
XM_017023458.1:c.739+40_739+41insGGGGGGGGAA	XP_016878947.1:n.739+40_739+41insGGGGGGGGAA
XR_932882.3:n.1101+40_1101+41insGGGGGGGGAA
NM_019109.5:c.1072+40_1072+41insGGGGGGGGAA MANE Select	NP_061982.3:n.1072+40_1072+41insGGGGGGGGAA
NM_001330504.2:c.739+40_739+41insGGGGGGGGAA	NP_001317433.1:n.739+40_739+41insGGGGGGGGAA