Canonical Allele Identifier: CA2697554056

Gene: GALC

Linked Data

• ClinVar Variation Id: 2729504
• ClinVar RCV Id: RCV003504365

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965536_87965601del , CM000676.2:g.87965536_87965601del	GRCh38
NC_000014.8:g.88431880_88431945del , CM000676.1:g.88431880_88431945del	GRCh37
NC_000014.7:g.87501633_87501698del	NCBI36
NG_011853.2:g.32966_33031del
NG_011853.3:g.32966_33031del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.940_1005del MANE Select	ENSP00000261304.2:p.Tyr314_Tyr335del
ENST00000261304.6:c.940_1005del	ENSP00000261304.2:p.Tyr314_Tyr335del
ENST00000393568.8:c.871_936del	ENSP00000377198.4:p.Tyr291_Tyr312del
ENST00000393569.6:c.862_927del	ENSP00000377199.2:p.Tyr288_Tyr309del
ENST00000474294.6:n.930_995del
ENST00000544807.6:c.772_837del	ENSP00000437513.2:p.Tyr258_Tyr279del
ENST00000555000.5:c.307_372del	ENSP00000450472.1:p.Tyr103_Tyr124del
ENST00000557316.5:c.*338_*403del	ENSP00000452314.1:n.*338_*403del
ENST00000557520.1:n.26_91del
ENST00000622264.4:c.930_995del
NM_000153.3:c.940_1005del	NP_000144.2:p.Tyr314_Tyr335del
NM_001201401.1:c.871_936del	NP_001188330.1:p.Tyr291_Tyr312del
NM_001201402.1:c.862_927del	NP_001188331.1:p.Tyr288_Tyr309del
XM_011536618.1:c.772_837del	XP_011534920.1:p.Tyr258_Tyr279del
XM_011536618.2:c.772_837del	XP_011534920.1:p.Tyr258_Tyr279del
NM_000153.4:c.940_1005del MANE Select	NP_000144.2:p.Tyr314_Tyr335del
NM_001201401.2:c.871_936del	NP_001188330.1:p.Tyr291_Tyr312del
NM_001201402.2:c.862_927del	NP_001188331.1:p.Tyr288_Tyr309del