Canonical Allele Identifier: CA2697554058

Gene: GALC

Linked Data

• ClinVar Variation Id: 2749934
• ClinVar RCV Id: RCV003502450

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976433del , CM000676.2:g.87976433del	GRCh38
NC_000014.8:g.88442777del , CM000676.1:g.88442777del	GRCh37
NC_000014.7:g.87512530del	NCBI36
NG_011853.2:g.22131del
NG_011853.3:g.22131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.677del MANE Select	ENSP00000261304.2:p.Ser226MetfsTer25
ENST00000261304.6:c.677del	ENSP00000261304.2:p.Ser226MetfsTer25
ENST00000393568.8:c.608del	ENSP00000377198.4:p.Ser203MetfsTer25
ENST00000393569.6:c.599del	ENSP00000377199.2:p.Ser200MetfsTer25
ENST00000474294.6:n.667del
ENST00000477716.3:n.432del
ENST00000544807.6:c.509del	ENSP00000437513.2:p.Ser170MetfsTer25
ENST00000554916.5:n.556del
ENST00000555000.5:c.44del	ENSP00000450472.1:p.Ser15MetfsTer25
ENST00000557316.5:c.*75del	ENSP00000452314.1:n.*75del
ENST00000622264.4:c.667del
NM_000153.3:c.677del	NP_000144.2:p.Ser226MetfsTer25
NM_001201401.1:c.608del	NP_001188330.1:p.Ser203MetfsTer25
NM_001201402.1:c.599del	NP_001188331.1:p.Ser200MetfsTer25
XM_011536618.1:c.509del	XP_011534920.1:p.Ser170MetfsTer25
XM_011536618.2:c.509del	XP_011534920.1:p.Ser170MetfsTer25
NM_000153.4:c.677del MANE Select	NP_000144.2:p.Ser226MetfsTer25
NM_001201401.2:c.608del	NP_001188330.1:p.Ser203MetfsTer25
NM_001201402.2:c.599del	NP_001188331.1:p.Ser200MetfsTer25