Canonical Allele Identifier: CA655658116

Gene: GALC

Linked Data

• COSMIC: COSN18737858 ; COSN18737883

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947720del , CM000676.2:g.87947720del	GRCh38
NC_000014.8:g.88414064del , CM000676.1:g.88414064del	GRCh37
NC_000014.7:g.87483817del	NCBI36
NG_011853.2:g.50848del
NG_011853.3:g.50848del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1489+12del MANE Select	ENSP00000261304.2:n.1489+12del
ENST00000261304.6:c.1489+12del	ENSP00000261304.2:n.1489+12del
ENST00000393568.8:c.1420+12del	ENSP00000377198.4:n.1420+12del
ENST00000393569.6:c.1411+12del	ENSP00000377199.2:n.1411+12del
ENST00000544807.6:c.1321+12del	ENSP00000437513.2:n.1321+12del
ENST00000555000.5:c.856+12del	ENSP00000450472.1:n.856+12del
ENST00000555179.1:c.206+12del
ENST00000557316.5:c.*887+12del	ENSP00000452314.1:n.*887+12del
NM_000153.3:c.1489+12del	NP_000144.2:n.1489+12del
NM_001201401.1:c.1420+12del	NP_001188330.1:n.1420+12del
NM_001201402.1:c.1411+12del	NP_001188331.1:n.1411+12del
XM_011536618.1:c.1321+12del	XP_011534920.1:n.1321+12del
XM_011536618.2:c.1321+12del	XP_011534920.1:n.1321+12del
NM_000153.4:c.1489+12del MANE Select	NP_000144.2:n.1489+12del
NM_001201401.2:c.1420+12del	NP_001188330.1:n.1420+12del
NM_001201402.2:c.1411+12del	NP_001188331.1:n.1411+12del