Canonical Allele Identifier: CA2153352628

Gene: GALC

Linked Data

• dbSNP Id: rs1884756408

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939792_87939793del , CM000676.2:g.87939792_87939793del	GRCh38
NC_000014.8:g.88406136_88406137del , CM000676.1:g.88406136_88406137del	GRCh37
NC_000014.7:g.87475889_87475890del	NCBI36
NG_011853.2:g.58772_58773del
NG_011853.3:g.58772_58773del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1911+113_1911+114del MANE Select	ENSP00000261304.2:n.1911+113_1911+114del
ENST00000261304.6:c.1911+113_1911+114del	ENSP00000261304.2:n.1911+113_1911+114del
ENST00000393568.8:c.1842+113_1842+114del	ENSP00000377198.4:n.1842+113_1842+114del
ENST00000393569.6:c.1833+113_1833+114del	ENSP00000377199.2:n.1833+113_1833+114del
ENST00000544807.6:c.1743+113_1743+114del	ENSP00000437513.2:n.1743+113_1743+114del
ENST00000555000.5:c.1278+113_1278+114del	ENSP00000450472.1:n.1278+113_1278+114del
ENST00000555179.1:c.447+113_447+114del
NM_000153.3:c.1911+113_1911+114del	NP_000144.2:n.1911+113_1911+114del
NM_001201401.1:c.1842+113_1842+114del	NP_001188330.1:n.1842+113_1842+114del
NM_001201402.1:c.1833+113_1833+114del	NP_001188331.1:n.1833+113_1833+114del
XM_011536618.1:c.1743+113_1743+114del	XP_011534920.1:n.1743+113_1743+114del
XM_011536618.2:c.1743+113_1743+114del	XP_011534920.1:n.1743+113_1743+114del
NM_000153.4:c.1911+113_1911+114del MANE Select	NP_000144.2:n.1911+113_1911+114del
NM_001201401.2:c.1842+113_1842+114del	NP_001188330.1:n.1842+113_1842+114del
NM_001201402.2:c.1833+113_1833+114del	NP_001188331.1:n.1833+113_1833+114del