Canonical Allele Identifier: CA645548168

Gene: GALT

Linked Data

• COSMIC: COSM5106641

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647184del , CM000671.2:g.34647184del	GRCh38
NC_000009.11:g.34647181del , CM000671.1:g.34647181del	GRCh37
NC_000009.10:g.34637181del	NCBI36
NG_009029.1:g.5547del
NG_009029.2:g.5596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.178del	ENSP00000509954.1:p.Gln60SerfsTer3
ENST00000378842.8:c.178del MANE Select	ENSP00000368119.4:p.Gln60SerfsTer3
ENST00000378842.7:c.178del	ENSP00000368119.3:p.Gln60SerfsTer3
ENST00000450095.6:c.-25del	ENSP00000401956.2:n.-25del
ENST00000465543.6:n.517del
ENST00000468099.2:n.218del
ENST00000472111.5:n.219del
ENST00000473506.6:c.178del	ENSP00000432839.2:p.Gln60SerfsTer3
ENST00000473529.5:n.225del
ENST00000485531.1:n.171del
ENST00000487381.5:n.204del
ENST00000489643.6:n.208del
ENST00000554085.5:c.178del	ENSP00000450419.1:p.Gln60SerfsTer3
ENST00000554139.5:n.231del
ENST00000554330.5:n.175del
ENST00000554550.5:c.178del	ENSP00000451435.1:p.Gln60SerfsTer3
ENST00000554638.5:n.202del
ENST00000554897.5:c.178del	ENSP00000450942.1:p.Gln60SerfsTer3
ENST00000554944.5:n.208del
ENST00000555020.5:n.208del
ENST00000555086.5:n.182del
ENST00000555214.5:n.187del
ENST00000556157.1:n.285del
ENST00000556244.1:c.62del
ENST00000556278.1:c.178del	ENSP00000451792.1:p.Gln60SerfsTer3
ENST00000556403.5:n.191del
ENST00000556494.5:n.210del
ENST00000557541.5:n.371del
ENST00000557706.5:n.292del
NM_000155.3:c.178del	NP_000146.2:p.Gln60SerfsTer3
NM_001258332.1:c.-25del	NP_001245261.1:n.-25del
NM_000155.4:c.178del MANE Select	NP_000146.2:p.Gln60SerfsTer3
NM_001258332.2:c.-25del	NP_001245261.1:n.-25del