Canonical Allele Identifier: CA2802492052

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945609_87945615del , CM000676.2:g.87945609_87945615del	GRCh38
NC_000014.8:g.88411953_88411959del , CM000676.1:g.88411953_88411959del	GRCh37
NC_000014.7:g.87481706_87481712del	NCBI36
NG_011853.2:g.52949_52955del
NG_011853.3:g.52949_52955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1608_1614del MANE Select	ENSP00000261304.2:p.Arg537LeufsTer14
ENST00000261304.6:c.1608_1614del	ENSP00000261304.2:p.Arg537LeufsTer14
ENST00000393568.8:c.1539_1545del	ENSP00000377198.4:p.Arg514LeufsTer14
ENST00000393569.6:c.1530_1536del	ENSP00000377199.2:p.Arg511LeufsTer14
ENST00000544807.6:c.1440_1446del	ENSP00000437513.2:p.Arg481LeufsTer14
ENST00000555000.5:c.975_981del	ENSP00000450472.1:p.Arg326LeufsTer14
ENST00000555179.1:c.206+2113_206+2119del
ENST00000557316.5:c.*1006_*1012del	ENSP00000452314.1:n.*1006_*1012del
NM_000153.3:c.1608_1614del	NP_000144.2:p.Arg537LeufsTer14
NM_001201401.1:c.1539_1545del	NP_001188330.1:p.Arg514LeufsTer14
NM_001201402.1:c.1530_1536del	NP_001188331.1:p.Arg511LeufsTer14
XM_011536618.1:c.1440_1446del	XP_011534920.1:p.Arg481LeufsTer14
XM_011536618.2:c.1440_1446del	XP_011534920.1:p.Arg481LeufsTer14
NM_000153.4:c.1608_1614del MANE Select	NP_000144.2:p.Arg537LeufsTer14
NM_001201401.2:c.1539_1545del	NP_001188330.1:p.Arg514LeufsTer14
NM_001201402.2:c.1530_1536del	NP_001188331.1:p.Arg511LeufsTer14