Canonical Allele Identifier: CA2580088851

Gene: GALC

Linked Data

• ClinVar Variation Id: 1726925
• ClinVar RCV Id: RCV002308400

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976463_87976464del , CM000676.2:g.87976463_87976464del	GRCh38
NC_000014.8:g.88442807_88442808del , CM000676.1:g.88442807_88442808del	GRCh37
NC_000014.7:g.87512560_87512561del	NCBI36
NG_011853.2:g.22100_22101del
NG_011853.3:g.22100_22101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.646_647del MANE Select	ENSP00000261304.2:p.Gln216ArgfsTer11
ENST00000261304.6:c.646_647del	ENSP00000261304.2:p.Gln216ArgfsTer11
ENST00000393568.8:c.577_578del	ENSP00000377198.4:p.Gln193ArgfsTer11
ENST00000393569.6:c.568_569del	ENSP00000377199.2:p.Gln190ArgfsTer11
ENST00000474294.6:n.636_637del
ENST00000477716.3:n.401_402del
ENST00000544807.6:c.478_479del	ENSP00000437513.2:p.Gln160ArgfsTer11
ENST00000554916.5:n.525_526del
ENST00000555000.5:c.13_14del	ENSP00000450472.1:p.Gln5ArgfsTer11
ENST00000557316.5:c.*44_*45del	ENSP00000452314.1:n.*44_*45del
ENST00000622264.4:c.636_637del
NM_000153.3:c.646_647del	NP_000144.2:p.Gln216ArgfsTer11
NM_001201401.1:c.577_578del	NP_001188330.1:p.Gln193ArgfsTer11
NM_001201402.1:c.568_569del	NP_001188331.1:p.Gln190ArgfsTer11
XM_011536618.1:c.478_479del	XP_011534920.1:p.Gln160ArgfsTer11
XM_011536618.2:c.478_479del	XP_011534920.1:p.Gln160ArgfsTer11
NM_000153.4:c.646_647del MANE Select	NP_000144.2:p.Gln216ArgfsTer11
NM_001201401.2:c.577_578del	NP_001188330.1:p.Gln193ArgfsTer11
NM_001201402.2:c.568_569del	NP_001188331.1:p.Gln190ArgfsTer11