Canonical Allele Identifier: CA2153358494

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947457_87947458delinsGT , CM000676.2:g.87947457_87947458delinsGT	GRCh38
NC_000014.8:g.88413801_88413802delinsGT , CM000676.1:g.88413801_88413802delinsGT	GRCh37
NC_000014.7:g.87483554_87483555delinsGT	NCBI36
NG_011853.2:g.51106_51107delinsAC
NG_011853.3:g.51106_51107delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1489+270_1489+271delinsAC MANE Select	ENSP00000261304.2:n.1489+270_1489+271delinsAC
ENST00000261304.6:c.1489+270_1489+271delinsAC	ENSP00000261304.2:n.1489+270_1489+271delinsAC
ENST00000393568.8:c.1420+270_1420+271delinsAC	ENSP00000377198.4:n.1420+270_1420+271delinsAC
ENST00000393569.6:c.1411+270_1411+271delinsAC	ENSP00000377199.2:n.1411+270_1411+271delinsAC
ENST00000544807.6:c.1321+270_1321+271delinsAC	ENSP00000437513.2:n.1321+270_1321+271delinsAC
ENST00000555000.5:c.856+270_856+271delinsAC	ENSP00000450472.1:n.856+270_856+271delinsAC
ENST00000555179.1:c.206+270_206+271delinsAC
ENST00000557316.5:c.*887+270_*887+271delinsAC	ENSP00000452314.1:n.*887+270_*887+271delinsAC
NM_000153.3:c.1489+270_1489+271delinsAC	NP_000144.2:n.1489+270_1489+271delinsAC
NM_001201401.1:c.1420+270_1420+271delinsAC	NP_001188330.1:n.1420+270_1420+271delinsAC
NM_001201402.1:c.1411+270_1411+271delinsAC	NP_001188331.1:n.1411+270_1411+271delinsAC
XM_011536618.1:c.1321+270_1321+271delinsAC	XP_011534920.1:n.1321+270_1321+271delinsAC
XM_011536618.2:c.1321+270_1321+271delinsAC	XP_011534920.1:n.1321+270_1321+271delinsAC
NM_000153.4:c.1489+270_1489+271delinsAC MANE Select	NP_000144.2:n.1489+270_1489+271delinsAC
NM_001201401.2:c.1420+270_1420+271delinsAC	NP_001188330.1:n.1420+270_1420+271delinsAC
NM_001201402.2:c.1411+270_1411+271delinsAC	NP_001188331.1:n.1411+270_1411+271delinsAC