Canonical Allele Identifier: CA2783504164
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647035_34647042del , CM000671.2:g.34647035_34647042del GRCh38
NC_000009.11:g.34647032_34647039del , CM000671.1:g.34647032_34647039del GRCh37
NC_000009.10:g.34637032_34637039del NCBI36
NG_009029.1:g.5398_5405del
NG_009029.2:g.5447_5454del

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.83-54_83-47del ENSP00000509954.1:n.83-54_83-47del
ENST00000378842.8:c.83-54_83-47del MANE Select ENSP00000368119.4:n.83-54_83-47del
ENST00000378842.7:c.83-54_83-47del ENSP00000368119.3:n.83-54_83-47del
ENST00000450095.6:c.-120-54_-120-47del ENSP00000401956.2:n.-120-54_-120-47del
ENST00000465543.6:n.368_375del
ENST00000468099.2:n.155-86_155-79del
ENST00000472111.5:n.124-54_124-47del
ENST00000473506.6:c.83-54_83-47del ENSP00000432839.2:n.83-54_83-47del
ENST00000473529.5:n.130-54_130-47del
ENST00000485531.1:n.76-54_76-47del
ENST00000487381.5:n.109-54_109-47del
ENST00000489643.6:n.113-54_113-47del
ENST00000554085.5:c.83-54_83-47del ENSP00000450419.1:n.83-54_83-47del
ENST00000554139.5:n.136-54_136-47del
ENST00000554330.5:n.80-54_80-47del
ENST00000554550.5:c.83-54_83-47del ENSP00000451435.1:n.83-54_83-47del
ENST00000554638.5:n.107-54_107-47del
ENST00000554897.5:c.83-54_83-47del ENSP00000450942.1:n.83-54_83-47del
ENST00000554944.5:n.113-54_113-47del
ENST00000555020.5:n.113-54_113-47del
ENST00000555086.5:n.87-54_87-47del
ENST00000555214.5:n.92-54_92-47del
ENST00000556157.1:n.136_143del
ENST00000556278.1:c.83-54_83-47del ENSP00000451792.1:n.83-54_83-47del
ENST00000556403.5:n.96-54_96-47del
ENST00000556494.5:n.115-54_115-47del
ENST00000557541.5:n.276-54_276-47del
ENST00000557706.5:n.143_150del
ENST00000605275.1:n.567_574del
NM_000155.3:c.83-54_83-47del NP_000146.2:n.83-54_83-47del
NM_001258332.1:c.-120-54_-120-47del NP_001245261.1:n.-120-54_-120-47del
NM_000155.4:c.83-54_83-47del MANE Select NP_000146.2:n.83-54_83-47del
NM_001258332.2:c.-120-54_-120-47del NP_001245261.1:n.-120-54_-120-47del