Canonical Allele Identifier: CA1845639819

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648848_34648860delinsTCGGCATGTGCGG , CM000671.2:g.34648848_34648860delinsTCGGCATGTGCGG	GRCh38
NC_000009.11:g.34648845_34648857delinsTCGGCATGTGCGG , CM000671.1:g.34648845_34648857delinsTCGGCATGTGCGG	GRCh37
NC_000009.10:g.34638845_34638857delinsTCGGCATGTGCGG	NCBI36
NG_028966.1:g.1664_1676delinsTCGGCATGTGCGG
NG_009029.2:g.7260_7272delinsTCGGCATGTGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*362_*374delinsTCGGCATGTGCGG	ENSP00000509954.1:n.*362_*374delinsTCGGCATGTGCGG
ENST00000378842.8:c.774_786delinsTCGGCATGTGCGG MANE Select	ENSP00000368119.4:p.Arg258=
ENST00000378842.7:c.774_786delinsTCGGCATGTGCGG	ENSP00000368119.3:p.Arg258=
ENST00000450095.6:c.447_459delinsTCGGCATGTGCGG	ENSP00000401956.2:p.Arg149=
ENST00000473506.6:c.*362_*374delinsTCGGCATGTGCGG	ENSP00000432839.2:n.*362_*374delinsTCGGCATGTGCGG
ENST00000489643.6:n.854_866delinsTCGGCATGTGCGG
ENST00000554085.5:c.*518_*530delinsTCGGCATGTGCGG	ENSP00000450419.1:n.*518_*530delinsTCGGCATGTGCGG
ENST00000554550.5:c.*394_*406delinsTCGGCATGTGCGG	ENSP00000451435.1:n.*394_*406delinsTCGGCATGTGCGG
ENST00000554638.5:n.1246_1258delinsTCGGCATGTGCGG
ENST00000555020.5:n.1235_1247delinsTCGGCATGTGCGG
ENST00000555086.5:n.778_790delinsTCGGCATGTGCGG
ENST00000555754.1:n.119_131delinsTCGGCATGTGCGG
ENST00000556244.1:c.761_773delinsTCGGCATGTGCGG
ENST00000556278.1:c.432+392_432+404delinsTCGGCATGTGCGG	ENSP00000451792.1:n.432+392_432+404delinsTCGGCATGTGCGG
ENST00000557706.5:n.1336_1348delinsTCGGCATGTGCGG
NM_000155.3:c.774_786delinsTCGGCATGTGCGG	NP_000146.2:p.Arg258=
NM_001258332.1:c.447_459delinsTCGGCATGTGCGG	NP_001245261.1:p.Arg149=
NM_000155.4:c.774_786delinsTCGGCATGTGCGG MANE Select	NP_000146.2:p.Arg258=
NM_001258332.2:c.447_459delinsTCGGCATGTGCGG	NP_001245261.1:p.Arg149=