Canonical Allele Identifier: CA2153358513

Gene: GALC

Linked Data

• dbSNP Id: rs1885118603

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947480_87947500del , CM000676.2:g.87947480_87947500del	GRCh38
NC_000014.8:g.88413824_88413844del , CM000676.1:g.88413824_88413844del	GRCh37
NC_000014.7:g.87483577_87483597del	NCBI36
NG_011853.2:g.51066_51086del
NG_011853.3:g.51066_51086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1489+230_1489+250del MANE Select	ENSP00000261304.2:n.1489+230_1489+250del
ENST00000261304.6:c.1489+230_1489+250del	ENSP00000261304.2:n.1489+230_1489+250del
ENST00000393568.8:c.1420+230_1420+250del	ENSP00000377198.4:n.1420+230_1420+250del
ENST00000393569.6:c.1411+230_1411+250del	ENSP00000377199.2:n.1411+230_1411+250del
ENST00000544807.6:c.1321+230_1321+250del	ENSP00000437513.2:n.1321+230_1321+250del
ENST00000555000.5:c.856+230_856+250del	ENSP00000450472.1:n.856+230_856+250del
ENST00000555179.1:c.206+230_206+250del
ENST00000557316.5:c.*887+230_*887+250del	ENSP00000452314.1:n.*887+230_*887+250del
NM_000153.3:c.1489+230_1489+250del	NP_000144.2:n.1489+230_1489+250del
NM_001201401.1:c.1420+230_1420+250del	NP_001188330.1:n.1420+230_1420+250del
NM_001201402.1:c.1411+230_1411+250del	NP_001188331.1:n.1411+230_1411+250del
XM_011536618.1:c.1321+230_1321+250del	XP_011534920.1:n.1321+230_1321+250del
XM_011536618.2:c.1321+230_1321+250del	XP_011534920.1:n.1321+230_1321+250del
NM_000153.4:c.1489+230_1489+250del MANE Select	NP_000144.2:n.1489+230_1489+250del
NM_001201401.2:c.1420+230_1420+250del	NP_001188330.1:n.1420+230_1420+250del
NM_001201402.2:c.1411+230_1411+250del	NP_001188331.1:n.1411+230_1411+250del