Canonical Allele Identifier: CA2695210534
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649501_34649502del , CM000671.2:g.34649501_34649502del GRCh38
NC_000009.11:g.34649498_34649499del , CM000671.1:g.34649498_34649499del GRCh37
NC_000009.10:g.34639498_34639499del NCBI36
NG_009029.1:g.7864_7865del
NG_028966.1:g.2317_2318del
NG_009029.2:g.7913_7914del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*584_*585del ENSP00000509954.1:n.*584_*585del
ENST00000378842.8:c.996_997del MANE Select ENSP00000368119.4:p.Arg333GlufsTer19
ENST00000378842.7:c.996_997del ENSP00000368119.3:p.Arg333GlufsTer19
ENST00000450095.6:c.669_670del ENSP00000401956.2:p.Arg224GlufsTer19
ENST00000488412.2:n.580_581del
ENST00000489643.6:n.1404_1405del
ENST00000554550.5:c.*616_*617del ENSP00000451435.1:n.*616_*617del
ENST00000554638.5:n.1468_1469del
ENST00000555020.5:n.1785_1786del
ENST00000555754.1:n.444_445del
ENST00000556278.1:c.432+1045_432+1046del ENSP00000451792.1:n.432+1045_432+1046del
ENST00000557706.5:n.1571_1572del
NM_000155.3:c.996_997del NP_000146.2:p.Arg333GlufsTer19
NM_001258332.1:c.669_670del NP_001245261.1:p.Arg224GlufsTer19
NM_000155.4:c.996_997del MANE Select NP_000146.2:p.Arg333GlufsTer19
NM_001258332.2:c.669_670del NP_001245261.1:p.Arg224GlufsTer19