Canonical Allele Identifier: CA2689808535
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647040_34647043del , CM000671.2:g.34647040_34647043del GRCh38
NC_000009.11:g.34647037_34647040del , CM000671.1:g.34647037_34647040del GRCh37
NC_000009.10:g.34637037_34637040del NCBI36
NG_009029.1:g.5403_5406del
NG_009029.2:g.5452_5455del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.83-49_83-46del ENSP00000509954.1:n.83-49_83-46del
ENST00000378842.8:c.83-49_83-46del MANE Select ENSP00000368119.4:n.83-49_83-46del
ENST00000378842.7:c.83-49_83-46del ENSP00000368119.3:n.83-49_83-46del
ENST00000450095.6:c.-120-49_-120-46del ENSP00000401956.2:n.-120-49_-120-46del
ENST00000465543.6:n.373_376del
ENST00000468099.2:n.155-81_155-78del
ENST00000472111.5:n.124-49_124-46del
ENST00000473506.6:c.83-49_83-46del ENSP00000432839.2:n.83-49_83-46del
ENST00000473529.5:n.130-49_130-46del
ENST00000485531.1:n.76-49_76-46del
ENST00000487381.5:n.109-49_109-46del
ENST00000489643.6:n.113-49_113-46del
ENST00000554085.5:c.83-49_83-46del ENSP00000450419.1:n.83-49_83-46del
ENST00000554139.5:n.136-49_136-46del
ENST00000554330.5:n.80-49_80-46del
ENST00000554550.5:c.83-49_83-46del ENSP00000451435.1:n.83-49_83-46del
ENST00000554638.5:n.107-49_107-46del
ENST00000554897.5:c.83-49_83-46del ENSP00000450942.1:n.83-49_83-46del
ENST00000554944.5:n.113-49_113-46del
ENST00000555020.5:n.113-49_113-46del
ENST00000555086.5:n.87-49_87-46del
ENST00000555214.5:n.92-49_92-46del
ENST00000556157.1:n.141_144del
ENST00000556278.1:c.83-49_83-46del ENSP00000451792.1:n.83-49_83-46del
ENST00000556403.5:n.96-49_96-46del
ENST00000556494.5:n.115-49_115-46del
ENST00000557541.5:n.276-49_276-46del
ENST00000557706.5:n.148_151del
ENST00000605275.1:n.572_575del
NM_000155.3:c.83-49_83-46del NP_000146.2:n.83-49_83-46del
NM_001258332.1:c.-120-49_-120-46del NP_001245261.1:n.-120-49_-120-46del
NM_000155.4:c.83-49_83-46del MANE Select NP_000146.2:n.83-49_83-46del
NM_001258332.2:c.-120-49_-120-46del NP_001245261.1:n.-120-49_-120-46del