Canonical Allele Identifier: CA913157564
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647185_34647186del , CM000671.2:g.34647185_34647186del GRCh38
NC_000009.11:g.34647182_34647183del , CM000671.1:g.34647182_34647183del GRCh37
NC_000009.10:g.34637182_34637183del NCBI36
NG_009029.1:g.5548_5549del
NG_028966.1:g.1_2del
NG_009029.2:g.5597_5598del

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.179_180del ENSP00000509954.1:p.Gln60ProfsTer9
ENST00000378842.8:c.179_180del MANE Select ENSP00000368119.4:p.Gln60ProfsTer9
ENST00000378842.7:c.179_180del ENSP00000368119.3:p.Gln60ProfsTer9
ENST00000450095.6:c.-24_-23del ENSP00000401956.2:n.-24_-23del
ENST00000465543.6:n.518_519del
ENST00000468099.2:n.219_220del
ENST00000472111.5:n.220_221del
ENST00000473506.6:c.179_180del ENSP00000432839.2:p.Gln60ProfsTer9
ENST00000473529.5:n.226_227del
ENST00000485531.1:n.172_173del
ENST00000487381.5:n.205_206del
ENST00000489643.6:n.209_210del
ENST00000554085.5:c.179_180del ENSP00000450419.1:p.Gln60ProfsTer9
ENST00000554139.5:n.232_233del
ENST00000554330.5:n.176_177del
ENST00000554550.5:c.179_180del ENSP00000451435.1:p.Gln60ProfsTer9
ENST00000554638.5:n.203_204del
ENST00000554897.5:c.179_180del ENSP00000450942.1:p.Gln60ProfsTer9
ENST00000554944.5:n.209_210del
ENST00000555020.5:n.209_210del
ENST00000555086.5:n.183_184del
ENST00000555214.5:n.188_189del
ENST00000556157.1:n.286_287del
ENST00000556244.1:c.63_64del
ENST00000556278.1:c.179_180del ENSP00000451792.1:p.Gln60ProfsTer9
ENST00000556403.5:n.192_193del
ENST00000556494.5:n.211_212del
ENST00000557541.5:n.372_373del
ENST00000557706.5:n.293_294del
NM_000155.3:c.179_180del NP_000146.2:p.Gln60ProfsTer9
NM_001258332.1:c.-24_-23del NP_001245261.1:n.-24_-23del
NM_000155.4:c.179_180del MANE Select NP_000146.2:p.Gln60ProfsTer9
NM_001258332.2:c.-24_-23del NP_001245261.1:n.-24_-23del