Canonical Allele Identifier: CA913157562
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647138_34647139del , CM000671.2:g.34647138_34647139del GRCh38
NC_000009.11:g.34647135_34647136del , CM000671.1:g.34647135_34647136del GRCh37
NC_000009.10:g.34637135_34637136del NCBI36
NG_009029.1:g.5501_5502del
NG_009029.2:g.5550_5551del

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.132_133del ENSP00000509954.1:p.Ala46SerfsTer23
ENST00000378842.8:c.132_133del MANE Select ENSP00000368119.4:p.Ala46SerfsTer23
ENST00000378842.7:c.132_133del ENSP00000368119.3:p.Ala46SerfsTer23
ENST00000450095.6:c.-71_-70del ENSP00000401956.2:n.-71_-70del
ENST00000465543.6:n.471_472del
ENST00000468099.2:n.172_173del
ENST00000472111.5:n.173_174del
ENST00000473506.6:c.132_133del ENSP00000432839.2:p.Ala46SerfsTer23
ENST00000473529.5:n.179_180del
ENST00000485531.1:n.125_126del
ENST00000487381.5:n.158_159del
ENST00000489643.6:n.162_163del
ENST00000554085.5:c.132_133del ENSP00000450419.1:p.Ala46SerfsTer23
ENST00000554139.5:n.185_186del
ENST00000554330.5:n.129_130del
ENST00000554550.5:c.132_133del ENSP00000451435.1:p.Ala46SerfsTer23
ENST00000554638.5:n.156_157del
ENST00000554897.5:c.132_133del ENSP00000450942.1:p.Ala46SerfsTer23
ENST00000554944.5:n.162_163del
ENST00000555020.5:n.162_163del
ENST00000555086.5:n.136_137del
ENST00000555214.5:n.141_142del
ENST00000556157.1:n.239_240del
ENST00000556244.1:c.16_17del
ENST00000556278.1:c.132_133del ENSP00000451792.1:p.Ala46SerfsTer23
ENST00000556403.5:n.145_146del
ENST00000556494.5:n.164_165del
ENST00000557541.5:n.325_326del
ENST00000557706.5:n.246_247del
ENST00000605275.1:n.670_671del
NM_000155.3:c.132_133del NP_000146.2:p.Ala46SerfsTer23
NM_001258332.1:c.-71_-70del NP_001245261.1:n.-71_-70del
NM_000155.4:c.132_133del MANE Select NP_000146.2:p.Ala46SerfsTer23
NM_001258332.2:c.-71_-70del NP_001245261.1:n.-71_-70del