Canonical Allele Identifier: CA912979936

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88406243_88406248del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939899_87939904del , CM000676.2:g.87939899_87939904del	GRCh38
NC_000014.8:g.88406243_88406248del , CM000676.1:g.88406243_88406248del	GRCh37
NC_000014.7:g.87475996_87476001del	NCBI36
NG_011853.2:g.58660_58665del
NG_011853.3:g.58660_58665del

Transcript Alleles

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