Canonical Allele Identifier: CA658683543

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648862_34648864dup , CM000671.2:g.34648862_34648864dup	GRCh38
NC_000009.11:g.34648859_34648861dup , CM000671.1:g.34648859_34648861dup	GRCh37
NC_000009.10:g.34638859_34638861dup	NCBI36
NG_009029.1:g.7225_7227dup
NG_028966.1:g.1678_1680dup
NG_009029.2:g.7274_7276dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.788_790dup MANE Select	NP_000146.2:p.Arg263_Leu264insArg
ENST00000378842.8:c.788_790dup MANE Select	ENSP00000368119.4:p.Arg263_Leu264insArg
NM_000155.3:c.788_790dup	NP_000146.2:p.Arg263_Leu264insArg
NM_001258332.1:c.461_463dup	NP_001245261.1:p.Arg154_Leu155insArg
NM_001258332.2:c.461_463dup	NP_001245261.1:p.Arg154_Leu155insArg
ENST00000378842.7:c.788_790dup	ENSP00000368119.3:p.Arg263_Leu264insArg
ENST00000450095.6:c.461_463dup	ENSP00000401956.2:p.Arg154_Leu155insArg
ENST00000473506.6:c.*376_*378dup	ENSP00000432839.2:n.*376_*378dup
ENST00000489643.6:n.868_870dup
ENST00000554085.5:c.*532_*534dup	ENSP00000450419.1:n.*532_*534dup
ENST00000554550.5:c.*408_*410dup	ENSP00000451435.1:n.*408_*410dup
ENST00000554638.5:n.1260_1262dup
ENST00000555020.5:n.1249_1251dup
ENST00000555086.5:n.792_794dup
ENST00000555754.1:n.133_135dup
ENST00000556244.1:c.775_777dup
ENST00000556278.1:c.432+406_432+408dup	ENSP00000451792.1:n.432+406_432+408dup
ENST00000557706.5:n.1350_1352dup
ENST00000691183.1:c.*376_*378dup	ENSP00000509954.1:n.*376_*378dup