Canonical Allele Identifier: CA2153358482

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947439_87947441delinsCAA , CM000676.2:g.87947439_87947441delinsCAA	GRCh38
NC_000014.8:g.88413783_88413785delinsCAA , CM000676.1:g.88413783_88413785delinsCAA	GRCh37
NC_000014.7:g.87483536_87483538delinsCAA	NCBI36
NG_011853.2:g.51123_51125delinsTTG
NG_011853.3:g.51123_51125delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1489+287_1489+289delinsTTG MANE Select	ENSP00000261304.2:n.1489+287_1489+289delinsTTG
ENST00000261304.6:c.1489+287_1489+289delinsTTG	ENSP00000261304.2:n.1489+287_1489+289delinsTTG
ENST00000393568.8:c.1420+287_1420+289delinsTTG	ENSP00000377198.4:n.1420+287_1420+289delinsTTG
ENST00000393569.6:c.1411+287_1411+289delinsTTG	ENSP00000377199.2:n.1411+287_1411+289delinsTTG
ENST00000544807.6:c.1321+287_1321+289delinsTTG	ENSP00000437513.2:n.1321+287_1321+289delinsTTG
ENST00000555000.5:c.856+287_856+289delinsTTG	ENSP00000450472.1:n.856+287_856+289delinsTTG
ENST00000555179.1:c.206+287_206+289delinsTTG
ENST00000557316.5:c.*887+287_*887+289delinsTTG	ENSP00000452314.1:n.*887+287_*887+289delinsTTG
NM_000153.3:c.1489+287_1489+289delinsTTG	NP_000144.2:n.1489+287_1489+289delinsTTG
NM_001201401.1:c.1420+287_1420+289delinsTTG	NP_001188330.1:n.1420+287_1420+289delinsTTG
NM_001201402.1:c.1411+287_1411+289delinsTTG	NP_001188331.1:n.1411+287_1411+289delinsTTG
XM_011536618.1:c.1321+287_1321+289delinsTTG	XP_011534920.1:n.1321+287_1321+289delinsTTG
XM_011536618.2:c.1321+287_1321+289delinsTTG	XP_011534920.1:n.1321+287_1321+289delinsTTG
NM_000153.4:c.1489+287_1489+289delinsTTG MANE Select	NP_000144.2:n.1489+287_1489+289delinsTTG
NM_001201401.2:c.1420+287_1420+289delinsTTG	NP_001188330.1:n.1420+287_1420+289delinsTTG
NM_001201402.2:c.1411+287_1411+289delinsTTG	NP_001188331.1:n.1411+287_1411+289delinsTTG