Canonical Allele Identifier: CA2580080412

Gene: GALT

Linked Data

• ClinVar Variation Id: 1724312
• ClinVar RCV Id: RCV002309580

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648828del , CM000671.2:g.34648828del	GRCh38
NC_000009.11:g.34648825del , CM000671.1:g.34648825del	GRCh37
NC_000009.10:g.34638825del	NCBI36
NG_009029.1:g.7191del
NG_028966.1:g.1644del
NG_009029.2:g.7240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*342del	ENSP00000509954.1:n.*342del
ENST00000378842.8:c.754del MANE Select	ENSP00000368119.4:p.Gln252ArgfsTer16
ENST00000378842.7:c.754del	ENSP00000368119.3:p.Gln252ArgfsTer16
ENST00000450095.6:c.427del	ENSP00000401956.2:p.Gln143ArgfsTer16
ENST00000473506.6:c.*342del	ENSP00000432839.2:n.*342del
ENST00000473529.5:n.913del
ENST00000489643.6:n.834del
ENST00000554085.5:c.*498del	ENSP00000450419.1:n.*498del
ENST00000554550.5:c.*374del	ENSP00000451435.1:n.*374del
ENST00000554638.5:n.1226del
ENST00000555020.5:n.1215del
ENST00000555086.5:n.758del
ENST00000555754.1:n.99del
ENST00000556244.1:c.741del
ENST00000556278.1:c.432+372del	ENSP00000451792.1:n.432+372del
ENST00000557706.5:n.1316del
NM_000155.3:c.754del	NP_000146.2:p.Gln252ArgfsTer16
NM_001258332.1:c.427del	NP_001245261.1:p.Gln143ArgfsTer16
NM_000155.4:c.754del MANE Select	NP_000146.2:p.Gln252ArgfsTer16
NM_001258332.2:c.427del	NP_001245261.1:p.Gln143ArgfsTer16