Canonical Allele Identifier: CA259329
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033651

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647142_34647146del , CM000671.2:g.34647142_34647146del GRCh38
NC_000009.11:g.34647139_34647143del , CM000671.1:g.34647139_34647143del GRCh37
NC_000009.10:g.34637139_34637143del NCBI36
NG_009029.1:g.5505_5509del
NG_009029.2:g.5554_5558del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.136_140del ENSP00000509954.1:p.Ala46ProfsTer22
ENST00000378842.8:c.136_140del MANE Select ENSP00000368119.4:p.Ala46ProfsTer22
ENST00000378842.7:c.136_140del ENSP00000368119.3:p.Ala46ProfsTer22
ENST00000450095.6:c.-67_-63del ENSP00000401956.2:n.-67_-63del
ENST00000465543.6:n.475_479del
ENST00000468099.2:n.176_180del
ENST00000472111.5:n.177_181del
ENST00000473506.6:c.136_140del ENSP00000432839.2:p.Ala46ProfsTer22
ENST00000473529.5:n.183_187del
ENST00000485531.1:n.129_133del
ENST00000487381.5:n.162_166del
ENST00000489643.6:n.166_170del
ENST00000554085.5:c.136_140del ENSP00000450419.1:p.Ala46ProfsTer22
ENST00000554139.5:n.189_193del
ENST00000554330.5:n.133_137del
ENST00000554550.5:c.136_140del ENSP00000451435.1:p.Ala46ProfsTer22
ENST00000554638.5:n.160_164del
ENST00000554897.5:c.136_140del ENSP00000450942.1:p.Ala46ProfsTer22
ENST00000554944.5:n.166_170del
ENST00000555020.5:n.166_170del
ENST00000555086.5:n.140_144del
ENST00000555214.5:n.145_149del
ENST00000556157.1:n.243_247del
ENST00000556244.1:c.20_24del
ENST00000556278.1:c.136_140del ENSP00000451792.1:p.Ala46ProfsTer22
ENST00000556403.5:n.149_153del
ENST00000556494.5:n.168_172del
ENST00000557541.5:n.329_333del
ENST00000557706.5:n.250_254del
ENST00000605275.1:n.674_678del
NM_000155.3:c.136_140del NP_000146.2:p.Ala46ProfsTer22
NM_001258332.1:c.-67_-63del NP_001245261.1:n.-67_-63del
NM_000155.4:c.136_140del MANE Select NP_000146.2:p.Ala46ProfsTer22
NM_001258332.2:c.-67_-63del NP_001245261.1:n.-67_-63del