Canonical Allele Identifier: CA2689808759

Gene: GALT

Linked Data

• gnomAD v4: 9-34648370-CGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648372_34648373del , CM000671.2:g.34648372_34648373del	GRCh38
NC_000009.11:g.34648369_34648370del , CM000671.1:g.34648369_34648370del	GRCh37
NC_000009.10:g.34638369_34638370del	NCBI36
NG_009029.1:g.6735_6736del
NG_028966.1:g.1188_1189del
NG_009029.2:g.6784_6785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*191_*192del	ENSP00000509954.1:n.*191_*192del
ENST00000378842.8:c.603_604del MANE Select	ENSP00000368119.4:p.Glu202GlyfsTer8
ENST00000378842.7:c.603_604del	ENSP00000368119.3:p.Glu202GlyfsTer8
ENST00000450095.6:c.276_277del	ENSP00000401956.2:p.Glu93GlyfsTer8
ENST00000472111.5:n.859_860del
ENST00000473506.6:c.*191_*192del	ENSP00000432839.2:n.*191_*192del
ENST00000473529.5:n.762_763del
ENST00000485531.1:n.1197_1198del
ENST00000487381.5:n.988_989del
ENST00000489643.6:n.378_379del
ENST00000554085.5:c.*347_*348del	ENSP00000450419.1:n.*347_*348del
ENST00000554139.5:n.849_850del
ENST00000554550.5:c.*223_*224del	ENSP00000451435.1:n.*223_*224del
ENST00000554638.5:n.1075_1076del
ENST00000554897.5:c.*290_*291del	ENSP00000450942.1:n.*290_*291del
ENST00000554944.5:n.952_953del
ENST00000555020.5:n.759_760del
ENST00000555086.5:n.607_608del
ENST00000555214.5:n.424_425del
ENST00000556244.1:c.590_591del
ENST00000556278.1:c.348_349del	ENSP00000451792.1:p.Glu117GlyfsTer8
ENST00000556494.5:n.724_725del
ENST00000557706.5:n.1165_1166del
NM_000155.3:c.603_604del	NP_000146.2:p.Glu202GlyfsTer8
NM_001258332.1:c.276_277del	NP_001245261.1:p.Glu93GlyfsTer8
NM_000155.4:c.603_604del MANE Select	NP_000146.2:p.Glu202GlyfsTer8
NM_001258332.2:c.276_277del	NP_001245261.1:p.Glu93GlyfsTer8