Canonical Allele Identifier: CA487355600

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88414070_88414071delAC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947726_87947727del , CM000676.2:g.87947726_87947727del	GRCh38
NC_000014.8:g.88414070_88414071del , CM000676.1:g.88414070_88414071del	GRCh37
NC_000014.7:g.87483823_87483824del	NCBI36
NG_011853.2:g.50838_50839del
NG_011853.3:g.50838_50839del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1489+2_1489+3del MANE Select	ENSP00000261304.2:n.1489+2_1489+3del
ENST00000261304.6:c.1489+2_1489+3del	ENSP00000261304.2:n.1489+2_1489+3del
ENST00000393568.8:c.1420+2_1420+3del	ENSP00000377198.4:n.1420+2_1420+3del
ENST00000393569.6:c.1411+2_1411+3del	ENSP00000377199.2:n.1411+2_1411+3del
ENST00000544807.6:c.1321+2_1321+3del	ENSP00000437513.2:n.1321+2_1321+3del
ENST00000555000.5:c.856+2_856+3del	ENSP00000450472.1:n.856+2_856+3del
ENST00000555179.1:c.206+2_206+3del
ENST00000557316.5:c.*887+2_*887+3del	ENSP00000452314.1:n.*887+2_*887+3del
NM_000153.3:c.1489+2_1489+3del	NP_000144.2:n.1489+2_1489+3del
NM_001201401.1:c.1420+2_1420+3del	NP_001188330.1:n.1420+2_1420+3del
NM_001201402.1:c.1411+2_1411+3del	NP_001188331.1:n.1411+2_1411+3del
XM_011536618.1:c.1321+2_1321+3del	XP_011534920.1:n.1321+2_1321+3del
XM_011536618.2:c.1321+2_1321+3del	XP_011534920.1:n.1321+2_1321+3del
NM_000153.4:c.1489+2_1489+3del MANE Select	NP_000144.2:n.1489+2_1489+3del
NM_001201401.2:c.1420+2_1420+3del	NP_001188330.1:n.1420+2_1420+3del
NM_001201402.2:c.1411+2_1411+3del	NP_001188331.1:n.1411+2_1411+3del