Canonical Allele Identifier: CA918445862
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1587237271

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647265del , CM000671.2:g.34647265del GRCh38
NC_000009.11:g.34647262del , CM000671.1:g.34647262del GRCh37
NC_000009.10:g.34637262del NCBI36
NG_009029.1:g.5628del
NG_028966.1:g.81del
NG_009029.2:g.5677del

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.252+7del ENSP00000509954.1:n.252+7del
ENST00000378842.8:c.252+7del MANE Select ENSP00000368119.4:n.252+7del
ENST00000378842.7:c.252+7del ENSP00000368119.3:n.252+7del
ENST00000450095.6:c.50+7del ENSP00000401956.2:n.50+7del
ENST00000465543.6:n.591+7del
ENST00000468099.2:n.299del
ENST00000472111.5:n.293+7del
ENST00000473506.6:c.252+7del ENSP00000432839.2:n.252+7del
ENST00000473529.5:n.299+7del
ENST00000485531.1:n.252del
ENST00000487381.5:n.285del
ENST00000489643.6:n.282+7del
ENST00000554085.5:c.252+7del ENSP00000450419.1:n.252+7del
ENST00000554139.5:n.305+7del
ENST00000554330.5:n.249+7del
ENST00000554550.5:c.252+7del ENSP00000451435.1:n.252+7del
ENST00000554638.5:n.283del
ENST00000554897.5:c.252+7del ENSP00000450942.1:n.252+7del
ENST00000554944.5:n.282+7del
ENST00000555020.5:n.282+7del
ENST00000555086.5:n.256+7del
ENST00000555214.5:n.261+7del
ENST00000556157.1:n.359+7del
ENST00000556244.1:c.136+7del
ENST00000556278.1:c.252+7del ENSP00000451792.1:n.252+7del
ENST00000556403.5:n.265+7del
ENST00000556494.5:n.284+7del
ENST00000557541.5:n.445+7del
ENST00000557706.5:n.373del
NM_000155.3:c.252+7del NP_000146.2:n.252+7del
NM_001258332.1:c.50+7del NP_001245261.1:n.50+7del
NM_000155.4:c.252+7del MANE Select NP_000146.2:n.252+7del
NM_001258332.2:c.50+7del NP_001245261.1:n.50+7del