Canonical Allele Identifier: CA2153381776

Gene: GALC

Linked Data

• dbSNP Id: rs1886494720

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976416_87976424del , CM000676.2:g.87976416_87976424del	GRCh38
NC_000014.8:g.88442760_88442768del , CM000676.1:g.88442760_88442768del	GRCh37
NC_000014.7:g.87512513_87512521del	NCBI36
NG_011853.2:g.22140_22148del
NG_011853.3:g.22140_22148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.686_694del MANE Select	ENSP00000261304.2:p.Leu229_Ser232delinsPro
ENST00000261304.6:c.686_694del	ENSP00000261304.2:p.Leu229_Ser232delinsPro
ENST00000393568.8:c.617_625del	ENSP00000377198.4:p.Leu206_Ser209delinsPro
ENST00000393569.6:c.608_616del	ENSP00000377199.2:p.Leu203_Ser206delinsPro
ENST00000474294.6:n.676_684del
ENST00000477716.3:n.441_449del
ENST00000544807.6:c.518_526del	ENSP00000437513.2:p.Leu173_Ser176delinsPro
ENST00000554916.5:n.565_573del
ENST00000555000.5:c.53_61del	ENSP00000450472.1:p.Leu18_Ser21delinsPro
ENST00000557316.5:c.*84_*92del	ENSP00000452314.1:n.*84_*92del
ENST00000622264.4:c.676_684del
NM_000153.3:c.686_694del	NP_000144.2:p.Leu229_Ser232delinsPro
NM_001201401.1:c.617_625del	NP_001188330.1:p.Leu206_Ser209delinsPro
NM_001201402.1:c.608_616del	NP_001188331.1:p.Leu203_Ser206delinsPro
XM_011536618.1:c.518_526del	XP_011534920.1:p.Leu173_Ser176delinsPro
XM_011536618.2:c.518_526del	XP_011534920.1:p.Leu173_Ser176delinsPro
NM_000153.4:c.686_694del MANE Select	NP_000144.2:p.Leu229_Ser232delinsPro
NM_001201401.2:c.617_625del	NP_001188330.1:p.Leu206_Ser209delinsPro
NM_001201402.2:c.608_616del	NP_001188331.1:p.Leu203_Ser206delinsPro