Canonical Allele Identifier: CA2689808694

Gene: GALT

Linked Data

• gnomAD v4: 9-34648151-A-AACCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648160_34648165dup , CM000671.2:g.34648160_34648165dup	GRCh38
NC_000009.11:g.34648157_34648162dup , CM000671.1:g.34648157_34648162dup	GRCh37
NC_000009.10:g.34638157_34638162dup	NCBI36
NG_009029.1:g.6523_6528dup
NG_028966.1:g.976_981dup
NG_009029.2:g.6572_6577dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*141_*146dup	ENSP00000509954.1:n.*141_*146dup
ENST00000378842.8:c.553_558dup MANE Select	ENSP00000368119.4:p.His186_Cys187insProHis
ENST00000378842.7:c.553_558dup	ENSP00000368119.3:p.His186_Cys187insProHis
ENST00000450095.6:c.226_231dup	ENSP00000401956.2:p.His77_Cys78insProHis
ENST00000465543.6:n.892_897dup
ENST00000472111.5:n.809_814dup
ENST00000473506.6:c.*141_*146dup	ENSP00000432839.2:n.*141_*146dup
ENST00000473529.5:n.712_717dup
ENST00000485531.1:n.1147_1152dup
ENST00000487381.5:n.938_943dup
ENST00000489643.6:n.328_333dup
ENST00000554085.5:c.*297_*302dup	ENSP00000450419.1:n.*297_*302dup
ENST00000554139.5:n.799_804dup
ENST00000554550.5:c.*173_*178dup	ENSP00000451435.1:n.*173_*178dup
ENST00000554638.5:n.1025_1030dup
ENST00000554897.5:c.*240_*245dup	ENSP00000450942.1:n.*240_*245dup
ENST00000554944.5:n.902_907dup
ENST00000555020.5:n.709_714dup
ENST00000555086.5:n.557_562dup
ENST00000555214.5:n.374_379dup
ENST00000556244.1:c.540_545dup
ENST00000556278.1:c.298_303dup	ENSP00000451792.1:p.His101_Cys102insProHis
ENST00000556494.5:n.674_679dup
ENST00000557706.5:n.1115_1120dup
NM_000155.3:c.553_558dup	NP_000146.2:p.His186_Cys187insProHis
NM_001258332.1:c.226_231dup	NP_001245261.1:p.His77_Cys78insProHis
NM_000155.4:c.553_558dup MANE Select	NP_000146.2:p.His186_Cys187insProHis
NM_001258332.2:c.226_231dup	NP_001245261.1:p.His77_Cys78insProHis