Canonical Allele Identifier: CA1845635367
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1790948910

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647126del , CM000671.2:g.34647126del GRCh38
NC_000009.11:g.34647123del , CM000671.1:g.34647123del GRCh37
NC_000009.10:g.34637123del NCBI36
NG_009029.1:g.5489del
NG_009029.2:g.5538del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.120del ENSP00000509954.1:p.Glu40AspfsTer10
ENST00000378842.8:c.120del MANE Select ENSP00000368119.4:p.Glu40AspfsTer10
ENST00000378842.7:c.120del ENSP00000368119.3:p.Glu40AspfsTer10
ENST00000450095.6:c.-83del ENSP00000401956.2:n.-83del
ENST00000465543.6:n.459del
ENST00000468099.2:n.160del
ENST00000472111.5:n.161del
ENST00000473506.6:c.120del ENSP00000432839.2:p.Glu40AspfsTer10
ENST00000473529.5:n.167del
ENST00000485531.1:n.113del
ENST00000487381.5:n.146del
ENST00000489643.6:n.150del
ENST00000554085.5:c.120del ENSP00000450419.1:p.Glu40AspfsTer10
ENST00000554139.5:n.173del
ENST00000554330.5:n.117del
ENST00000554550.5:c.120del ENSP00000451435.1:p.Glu40AspfsTer10
ENST00000554638.5:n.144del
ENST00000554897.5:c.120del ENSP00000450942.1:p.Glu40AspfsTer10
ENST00000554944.5:n.150del
ENST00000555020.5:n.150del
ENST00000555086.5:n.124del
ENST00000555214.5:n.129del
ENST00000556157.1:n.227del
ENST00000556244.1:c.4del
ENST00000556278.1:c.120del ENSP00000451792.1:p.Glu40AspfsTer10
ENST00000556403.5:n.133del
ENST00000556494.5:n.152del
ENST00000557541.5:n.313del
ENST00000557706.5:n.234del
ENST00000605275.1:n.658del
NM_000155.3:c.120del NP_000146.2:p.Glu40AspfsTer10
NM_001258332.1:c.-83del NP_001245261.1:n.-83del
NM_000155.4:c.120del MANE Select NP_000146.2:p.Glu40AspfsTer10
NM_001258332.2:c.-83del NP_001245261.1:n.-83del