Canonical Allele Identifier: CA2203686220

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5081299_5081303delinsTCTTC , CM000678.2:g.5081299_5081303delinsTCTTC	GRCh38
NC_000016.9:g.5131300_5131304delinsTCTTC , CM000678.1:g.5131300_5131304delinsTCTTC	GRCh37
NC_000016.8:g.5071301_5071305delinsTCTTC	NCBI36
NG_009202.1:g.14491_14495delinsTCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3208+243_3208+247delinsTCTTC
ENST00000682020.1:c.478+243_478+247delinsTCTTC	ENSP00000508075.1:n.478+243_478+247delinsTCTTC
ENST00000682206.1:c.*164+243_*164+247delinsTCTTC	ENSP00000508285.1:n.*164+243_*164+247delinsTCTTC
ENST00000682314.1:n.1120+243_1120+247delinsTCTTC
ENST00000682327.1:c.544+243_544+247delinsTCTTC	ENSP00000507058.1:n.544+243_544+247delinsTCTTC
ENST00000682349.1:n.3214+243_3214+247delinsTCTTC
ENST00000682703.1:n.4040+243_4040+247delinsTCTTC
ENST00000682797.1:c.*164+243_*164+247delinsTCTTC	ENSP00000507582.1:n.*164+243_*164+247delinsTCTTC
ENST00000682985.1:c.583+243_583+247delinsTCTTC	ENSP00000507598.1:n.583+243_583+247delinsTCTTC
ENST00000683433.1:c.328+243_328+247delinsTCTTC	ENSP00000507463.1:n.328+243_328+247delinsTCTTC
ENST00000683685.1:n.1946+243_1946+247delinsTCTTC
ENST00000683710.1:c.*1039+243_*1039+247delinsTCTTC	ENSP00000506785.1:n.*1039+243_*1039+247delinsTCTTC
ENST00000683739.1:c.739+243_739+247delinsTCTTC	ENSP00000507002.1:n.739+243_739+247delinsTCTTC
ENST00000683772.1:n.1116+243_1116+247delinsTCTTC
ENST00000684008.1:c.1010+243_1010+247delinsTCTTC	ENSP00000507962.1:n.1010+243_1010+247delinsTCTTC
ENST00000684190.1:c.1033+243_1033+247delinsTCTTC	ENSP00000507554.1:n.1033+243_1033+247delinsTCTTC
ENST00000684335.1:c.962-1260_962-1256delinsTCTTC	ENSP00000508112.1:n.962-1260_962-1256delinsTCTTC
ENST00000262374.10:c.1072+243_1072+247delinsTCTTC MANE Select	ENSP00000262374.5:n.1072+243_1072+247delinsTCTTC
ENST00000650085.1:n.1896+243_1896+247delinsTCTTC
ENST00000262374.9:c.1072+243_1072+247delinsTCTTC	ENSP00000262374.4:n.1072+243_1072+247delinsTCTTC
ENST00000544428.1:c.739+243_739+247delinsTCTTC	ENSP00000440019.1:n.739+243_739+247delinsTCTTC
ENST00000588623.5:c.739+243_739+247delinsTCTTC	ENSP00000468118.1:n.739+243_739+247delinsTCTTC
ENST00000591822.5:c.*973+243_*973+247delinsTCTTC	ENSP00000467865.1:n.*973+243_*973+247delinsTCTTC
NM_019109.4:c.1072+243_1072+247delinsTCTTC	NP_061982.3:n.1072+243_1072+247delinsTCTTC
XM_011522565.1:c.739+243_739+247delinsTCTTC	XP_011520867.1:n.739+243_739+247delinsTCTTC
NM_001330504.1:c.739+243_739+247delinsTCTTC	NP_001317433.1:n.739+243_739+247delinsTCTTC
XM_017023457.2:c.1033+243_1033+247delinsTCTTC	XP_016878946.1:n.1033+243_1033+247delinsTCTTC
XM_017023458.1:c.739+243_739+247delinsTCTTC	XP_016878947.1:n.739+243_739+247delinsTCTTC
XR_932882.3:n.1101+243_1101+247delinsTCTTC
NM_019109.5:c.1072+243_1072+247delinsTCTTC MANE Select	NP_061982.3:n.1072+243_1072+247delinsTCTTC
NM_001330504.2:c.739+243_739+247delinsTCTTC	NP_001317433.1:n.739+243_739+247delinsTCTTC