Canonical Allele Identifier: CA2153352680

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939899_87939904delinsACTTAC , CM000676.2:g.87939899_87939904delinsACTTAC	GRCh38
NC_000014.8:g.88406243_88406248delinsACTTAC , CM000676.1:g.88406243_88406248delinsACTTAC	GRCh37
NC_000014.7:g.87475996_87476001delinsACTTAC	NCBI36
NG_011853.2:g.58660_58665delinsGTAAGT
NG_011853.3:g.58660_58665delinsGTAAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1911+1_1911+6delinsGTAAGT MANE Select	ENSP00000261304.2:n.1911+1_1911+6delinsGT...
ENST00000261304.6:c.1911+1_1911+6delinsGTAAGT	ENSP00000261304.2:n.1911+1_1911+6delinsGT...
ENST00000393568.8:c.1842+1_1842+6delinsGTAAGT	ENSP00000377198.4:n.1842+1_1842+6delinsGT...
ENST00000393569.6:c.1833+1_1833+6delinsGTAAGT	ENSP00000377199.2:n.1833+1_1833+6delinsGT...
ENST00000544807.6:c.1743+1_1743+6delinsGTAAGT	ENSP00000437513.2:n.1743+1_1743+6delinsGT...
ENST00000555000.5:c.1278+1_1278+6delinsGTAAGT	ENSP00000450472.1:n.1278+1_1278+6delinsGT...
ENST00000555179.1:c.447+1_447+6delinsGTAAGT
NM_000153.3:c.1911+1_1911+6delinsGTAAGT	NP_000144.2:n.1911+1_1911+6delinsGTAAGT
NM_001201401.1:c.1842+1_1842+6delinsGTAAGT	NP_001188330.1:n.1842+1_1842+6delinsGTAAG...
NM_001201402.1:c.1833+1_1833+6delinsGTAAGT	NP_001188331.1:n.1833+1_1833+6delinsGTAAG...
XM_011536618.1:c.1743+1_1743+6delinsGTAAGT	XP_011534920.1:n.1743+1_1743+6delinsGTAAG...
XM_011536618.2:c.1743+1_1743+6delinsGTAAGT	XP_011534920.1:n.1743+1_1743+6delinsGTAAG...
NM_000153.4:c.1911+1_1911+6delinsGTAAGT MANE Select	NP_000144.2:n.1911+1_1911+6delinsGTAAGT
NM_001201401.2:c.1842+1_1842+6delinsGTAAGT	NP_001188330.1:n.1842+1_1842+6delinsGTAAG...
NM_001201402.2:c.1833+1_1833+6delinsGTAAGT	NP_001188331.1:n.1833+1_1833+6delinsGTAAG...