Canonical Allele Identifier: CA2153345229

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965594_87965595delinsTC , CM000676.2:g.87965594_87965595delinsTC	GRCh38
NC_000014.8:g.88431938_88431939delinsTC , CM000676.1:g.88431938_88431939delinsTC	GRCh37
NC_000014.7:g.87501691_87501692delinsTC	NCBI36
NG_011853.2:g.32969_32970delinsGA
NG_011853.3:g.32969_32970delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.943_944delinsGA MANE Select	ENSP00000261304.2:p.Glu315=
ENST00000261304.6:c.943_944delinsGA	ENSP00000261304.2:p.Glu315=
ENST00000393568.8:c.874_875delinsGA	ENSP00000377198.4:p.Glu292=
ENST00000393569.6:c.865_866delinsGA	ENSP00000377199.2:p.Glu289=
ENST00000474294.6:n.933_934delinsGA
ENST00000544807.6:c.775_776delinsGA	ENSP00000437513.2:p.Glu259=
ENST00000555000.5:c.310_311delinsGA	ENSP00000450472.1:p.Glu104=
ENST00000557316.5:c.*341_*342delinsGA	ENSP00000452314.1:n.*341_*342delinsGA
ENST00000557520.1:n.29_30delinsGA
ENST00000622264.4:c.933_934delinsGA
NM_000153.3:c.943_944delinsGA	NP_000144.2:p.Glu315=
NM_001201401.1:c.874_875delinsGA	NP_001188330.1:p.Glu292=
NM_001201402.1:c.865_866delinsGA	NP_001188331.1:p.Glu289=
XM_011536618.1:c.775_776delinsGA	XP_011534920.1:p.Glu259=
XM_011536618.2:c.775_776delinsGA	XP_011534920.1:p.Glu259=
NM_000153.4:c.943_944delinsGA MANE Select	NP_000144.2:p.Glu315=
NM_001201401.2:c.874_875delinsGA	NP_001188330.1:p.Glu292=
NM_001201402.2:c.865_866delinsGA	NP_001188331.1:p.Glu289=