Canonical Allele Identifier: CA2689808621

Gene: GALT

Linked Data

• gnomAD v4: 9-34647535-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647538del , CM000671.2:g.34647538del	GRCh38
NC_000009.11:g.34647535del , CM000671.1:g.34647535del	GRCh37
NC_000009.10:g.34637535del	NCBI36
NG_009029.1:g.5901del
NG_028966.1:g.354del
NG_009029.2:g.5950del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.299del	ENSP00000509954.1:p.Pro100GlnfsTer11
ENST00000378842.8:c.299del MANE Select	ENSP00000368119.4:p.Pro100GlnfsTer?
ENST00000378842.7:c.299del	ENSP00000368119.3:p.Pro100GlnfsTer?
ENST00000450095.6:c.50+280del	ENSP00000401956.2:n.50+280del
ENST00000465543.6:n.638del
ENST00000472111.5:n.340del
ENST00000473506.6:c.253-3del	ENSP00000432839.2:n.253-3del
ENST00000473529.5:n.346del
ENST00000485531.1:n.525del
ENST00000487381.5:n.558del
ENST00000489643.6:n.282+280del
ENST00000554085.5:c.*43del	ENSP00000450419.1:n.*43del
ENST00000554139.5:n.352del
ENST00000554330.5:n.250-3del
ENST00000554550.5:c.252+280del	ENSP00000451435.1:n.252+280del
ENST00000554638.5:n.556del
ENST00000554897.5:c.252+280del	ENSP00000450942.1:n.252+280del
ENST00000554944.5:n.283-3del
ENST00000555020.5:n.329del
ENST00000555086.5:n.303del
ENST00000555214.5:n.261+280del
ENST00000556157.1:n.423del
ENST00000556244.1:c.286del
ENST00000556278.1:c.252+280del	ENSP00000451792.1:n.252+280del
ENST00000556403.5:n.312del
ENST00000556494.5:n.331del
ENST00000557541.5:n.446-3del
ENST00000557706.5:n.646del
NM_000155.3:c.299del	NP_000146.2:p.Pro100GlnfsTer?
NM_001258332.1:c.50+280del	NP_001245261.1:n.50+280del
NM_000155.4:c.299del MANE Select	NP_000146.2:p.Pro100GlnfsTer?
NM_001258332.2:c.50+280del	NP_001245261.1:n.50+280del