Canonical Allele Identifier: CA2695219637

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976455_87976462del , CM000676.2:g.87976455_87976462del	GRCh38
NC_000014.8:g.88442799_88442806del , CM000676.1:g.88442799_88442806del	GRCh37
NC_000014.7:g.87512552_87512559del	NCBI36
NG_011853.2:g.22104_22111del
NG_011853.3:g.22104_22111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.650_657del MANE Select	ENSP00000261304.2:p.Gly217AlafsTer8
ENST00000261304.6:c.650_657del	ENSP00000261304.2:p.Gly217AlafsTer8
ENST00000393568.8:c.581_588del	ENSP00000377198.4:p.Gly194AlafsTer8
ENST00000393569.6:c.572_579del	ENSP00000377199.2:p.Gly191AlafsTer8
ENST00000474294.6:n.640_647del
ENST00000477716.3:n.405_412del
ENST00000544807.6:c.482_489del	ENSP00000437513.2:p.Gly161AlafsTer8
ENST00000554916.5:n.529_536del
ENST00000555000.5:c.17_24del	ENSP00000450472.1:p.Gly6AlafsTer8
ENST00000557316.5:c.*48_*55del	ENSP00000452314.1:n.*48_*55del
ENST00000622264.4:c.640_647del
NM_000153.3:c.650_657del	NP_000144.2:p.Gly217AlafsTer8
NM_001201401.1:c.581_588del	NP_001188330.1:p.Gly194AlafsTer8
NM_001201402.1:c.572_579del	NP_001188331.1:p.Gly191AlafsTer8
XM_011536618.1:c.482_489del	XP_011534920.1:p.Gly161AlafsTer8
XM_011536618.2:c.482_489del	XP_011534920.1:p.Gly161AlafsTer8
NM_000153.4:c.650_657del MANE Select	NP_000144.2:p.Gly217AlafsTer8
NM_001201401.2:c.581_588del	NP_001188330.1:p.Gly194AlafsTer8
NM_001201402.2:c.572_579del	NP_001188331.1:p.Gly191AlafsTer8