Canonical Allele Identifier: CA2573150290

Gene: GALC

Linked Data

• ClinVar Variation Id: 1469051
• ClinVar RCV Id: RCV001993804
• dbSNP Id: rs2139941321

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941429_87941440del , CM000676.2:g.87941429_87941440del	GRCh38
NC_000014.8:g.88407773_88407784del , CM000676.1:g.88407773_88407784del	GRCh37
NC_000014.7:g.87477526_87477537del	NCBI36
NG_011853.2:g.57124_57135del
NG_011853.3:g.57124_57135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1789_1800del MANE Select	ENSP00000261304.2:p.Phe597_Phe600del
ENST00000261304.6:c.1789_1800del	ENSP00000261304.2:p.Phe597_Phe600del
ENST00000393568.8:c.1720_1731del	ENSP00000377198.4:p.Phe574_Phe577del
ENST00000393569.6:c.1711_1722del	ENSP00000377199.2:p.Phe571_Phe574del
ENST00000544807.6:c.1621_1632del	ENSP00000437513.2:p.Phe541_Phe544del
ENST00000555000.5:c.1156_1167del	ENSP00000450472.1:p.Phe386_Phe389del
ENST00000555179.1:c.325_336del
ENST00000557316.5:c.*1187_*1198del	ENSP00000452314.1:n.*1187_*1198del
NM_000153.3:c.1789_1800del	NP_000144.2:p.Phe597_Phe600del
NM_001201401.1:c.1720_1731del	NP_001188330.1:p.Phe574_Phe577del
NM_001201402.1:c.1711_1722del	NP_001188331.1:p.Phe571_Phe574del
XM_011536618.1:c.1621_1632del	XP_011534920.1:p.Phe541_Phe544del
XM_011536618.2:c.1621_1632del	XP_011534920.1:p.Phe541_Phe544del
NM_000153.4:c.1789_1800del MANE Select	NP_000144.2:p.Phe597_Phe600del
NM_001201401.2:c.1720_1731del	NP_001188330.1:p.Phe574_Phe577del
NM_001201402.2:c.1711_1722del	NP_001188331.1:p.Phe571_Phe574del