Canonical Allele Identifier: CA913157563
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647167_34647168del , CM000671.2:g.34647167_34647168del GRCh38
NC_000009.11:g.34647164_34647165del , CM000671.1:g.34647164_34647165del GRCh37
NC_000009.10:g.34637164_34637165del NCBI36
NG_009029.1:g.5530_5531del
NG_009029.2:g.5579_5580del

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.161_162del ENSP00000509954.1:p.Gln54ArgfsTer15
ENST00000378842.8:c.161_162del MANE Select ENSP00000368119.4:p.Gln54ArgfsTer15
ENST00000378842.7:c.161_162del ENSP00000368119.3:p.Gln54ArgfsTer15
ENST00000450095.6:c.-42_-41del ENSP00000401956.2:n.-42_-41del
ENST00000465543.6:n.500_501del
ENST00000468099.2:n.201_202del
ENST00000472111.5:n.202_203del
ENST00000473506.6:c.161_162del ENSP00000432839.2:p.Gln54ArgfsTer15
ENST00000473529.5:n.208_209del
ENST00000485531.1:n.154_155del
ENST00000487381.5:n.187_188del
ENST00000489643.6:n.191_192del
ENST00000554085.5:c.161_162del ENSP00000450419.1:p.Gln54ArgfsTer15
ENST00000554139.5:n.214_215del
ENST00000554330.5:n.158_159del
ENST00000554550.5:c.161_162del ENSP00000451435.1:p.Gln54ArgfsTer15
ENST00000554638.5:n.185_186del
ENST00000554897.5:c.161_162del ENSP00000450942.1:p.Gln54ArgfsTer15
ENST00000554944.5:n.191_192del
ENST00000555020.5:n.191_192del
ENST00000555086.5:n.165_166del
ENST00000555214.5:n.170_171del
ENST00000556157.1:n.268_269del
ENST00000556244.1:c.45_46del
ENST00000556278.1:c.161_162del ENSP00000451792.1:p.Gln54ArgfsTer15
ENST00000556403.5:n.174_175del
ENST00000556494.5:n.193_194del
ENST00000557541.5:n.354_355del
ENST00000557706.5:n.275_276del
NM_000155.3:c.161_162del NP_000146.2:p.Gln54ArgfsTer15
NM_001258332.1:c.-42_-41del NP_001245261.1:n.-42_-41del
NM_000155.4:c.161_162del MANE Select NP_000146.2:p.Gln54ArgfsTer15
NM_001258332.2:c.-42_-41del NP_001245261.1:n.-42_-41del