Canonical Allele Identifier: CA2153358575

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947540_87947541delinsTC , CM000676.2:g.87947540_87947541delinsTC	GRCh38
NC_000014.8:g.88413884_88413885delinsTC , CM000676.1:g.88413884_88413885delinsTC	GRCh37
NC_000014.7:g.87483637_87483638delinsTC	NCBI36
NG_011853.2:g.51023_51024delinsGA
NG_011853.3:g.51023_51024delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1489+187_1489+188delinsGA MANE Select	ENSP00000261304.2:n.1489+187_1489+188delinsGA
ENST00000261304.6:c.1489+187_1489+188delinsGA	ENSP00000261304.2:n.1489+187_1489+188delinsGA
ENST00000393568.8:c.1420+187_1420+188delinsGA	ENSP00000377198.4:n.1420+187_1420+188delinsGA
ENST00000393569.6:c.1411+187_1411+188delinsGA	ENSP00000377199.2:n.1411+187_1411+188delinsGA
ENST00000544807.6:c.1321+187_1321+188delinsGA	ENSP00000437513.2:n.1321+187_1321+188delinsGA
ENST00000555000.5:c.856+187_856+188delinsGA	ENSP00000450472.1:n.856+187_856+188delinsGA
ENST00000555179.1:c.206+187_206+188delinsGA
ENST00000557316.5:c.*887+187_*887+188delinsGA	ENSP00000452314.1:n.*887+187_*887+188delinsGA
NM_000153.3:c.1489+187_1489+188delinsGA	NP_000144.2:n.1489+187_1489+188delinsGA
NM_001201401.1:c.1420+187_1420+188delinsGA	NP_001188330.1:n.1420+187_1420+188delinsGA
NM_001201402.1:c.1411+187_1411+188delinsGA	NP_001188331.1:n.1411+187_1411+188delinsGA
XM_011536618.1:c.1321+187_1321+188delinsGA	XP_011534920.1:n.1321+187_1321+188delinsGA
XM_011536618.2:c.1321+187_1321+188delinsGA	XP_011534920.1:n.1321+187_1321+188delinsGA
NM_000153.4:c.1489+187_1489+188delinsGA MANE Select	NP_000144.2:n.1489+187_1489+188delinsGA
NM_001201401.2:c.1420+187_1420+188delinsGA	NP_001188330.1:n.1420+187_1420+188delinsGA
NM_001201402.2:c.1411+187_1411+188delinsGA	NP_001188331.1:n.1411+187_1411+188delinsGA