Canonical Allele Identifier: CA2203687530

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082574_5082578delinsGTGTC , CM000678.2:g.5082574_5082578delinsGTGTC	GRCh38
NC_000016.9:g.5132575_5132579delinsGTGTC , CM000678.1:g.5132575_5132579delinsGTGTC	GRCh37
NC_000016.8:g.5072576_5072580delinsGTGTC	NCBI36
NG_009202.1:g.15766_15770delinsGTGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000592793.6:n.3224_3228delinsGTGTC
ENST00000682020.1:c.494_498delinsGTGTC	ENSP00000508075.1:p.Gly165=
ENST00000682206.1:c.*183_*187delinsGTGTC	ENSP00000508285.1:n.*183_*187delinsGTGTC
ENST00000682314.1:n.1136_1140delinsGTGTC
ENST00000682327.1:c.560_564delinsGTGTC	ENSP00000507058.1:p.Gly187=
ENST00000682349.1:n.3230_3234delinsGTGTC
ENST00000682703.1:n.4056_4060delinsGTGTC
ENST00000682797.1:c.*180_*184delinsGTGTC	ENSP00000507582.1:n.*180_*184delinsGTGTC
ENST00000682985.1:c.599_603delinsGTGTC	ENSP00000507598.1:p.Gly200=
ENST00000683433.1:c.347_351delinsGTGTC	ENSP00000507463.1:p.Gly116=
ENST00000683685.1:n.1962_1966delinsGTGTC
ENST00000683710.1:c.*1055_*1059delinsGTGTC	ENSP00000506785.1:n.*1055_*1059delinsGTGTC
ENST00000683739.1:c.755_759delinsGTGTC	ENSP00000507002.1:p.Gly252=
ENST00000683772.1:n.1132_1136delinsGTGTC
ENST00000684008.1:c.1026_1030delinsGTGTC	ENSP00000507962.1:n.1026_1030delinsGTGTC
ENST00000684190.1:c.1049_1053delinsGTGTC	ENSP00000507554.1:p.Gly350=
ENST00000684335.1:c.977_981delinsGTGTC	ENSP00000508112.1:p.Gly326=
ENST00000262374.10:c.1088_1092delinsGTGTC MANE Select	ENSP00000262374.5:p.Gly363=
ENST00000650085.1:n.1912_1916delinsGTGTC
ENST00000262374.9:c.1088_1092delinsGTGTC	ENSP00000262374.4:p.Gly363=
ENST00000544428.1:c.755_759delinsGTGTC	ENSP00000440019.1:p.Gly252=
ENST00000588623.5:c.755_759delinsGTGTC	ENSP00000468118.1:p.Gly252=
ENST00000591822.5:c.*989_*993delinsGTGTC	ENSP00000467865.1:n.*989_*993delinsGTGTC
NM_019109.4:c.1088_1092delinsGTGTC	NP_061982.3:p.Gly363=
XM_011522565.1:c.755_759delinsGTGTC	XP_011520867.1:p.Gly252=
NM_001330504.1:c.755_759delinsGTGTC	NP_001317433.1:p.Gly252=
XM_017023457.2:c.1049_1053delinsGTGTC	XP_016878946.1:p.Gly350=
XM_017023458.1:c.755_759delinsGTGTC	XP_016878947.1:p.Gly252=
XR_932882.3:n.1117_1121delinsGTGTC
NM_019109.5:c.1088_1092delinsGTGTC MANE Select	NP_061982.3:p.Gly363=
NM_001330504.2:c.755_759delinsGTGTC	NP_001317433.1:p.Gly252=