Canonical Allele Identifier: CA2153358538

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947511_87947512delinsAT , CM000676.2:g.87947511_87947512delinsAT	GRCh38
NC_000014.8:g.88413855_88413856delinsAT , CM000676.1:g.88413855_88413856delinsAT	GRCh37
NC_000014.7:g.87483608_87483609delinsAT	NCBI36
NG_011853.2:g.51052_51053delinsAT
NG_011853.3:g.51052_51053delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1489+216_1489+217delinsAT MANE Select	ENSP00000261304.2:n.1489+216_1489+217delinsAT
ENST00000261304.6:c.1489+216_1489+217delinsAT	ENSP00000261304.2:n.1489+216_1489+217delinsAT
ENST00000393568.8:c.1420+216_1420+217delinsAT	ENSP00000377198.4:n.1420+216_1420+217delinsAT
ENST00000393569.6:c.1411+216_1411+217delinsAT	ENSP00000377199.2:n.1411+216_1411+217delinsAT
ENST00000544807.6:c.1321+216_1321+217delinsAT	ENSP00000437513.2:n.1321+216_1321+217delinsAT
ENST00000555000.5:c.856+216_856+217delinsAT	ENSP00000450472.1:n.856+216_856+217delinsAT
ENST00000555179.1:c.206+216_206+217delinsAT
ENST00000557316.5:c.*887+216_*887+217delinsAT	ENSP00000452314.1:n.*887+216_*887+217delinsAT
NM_000153.3:c.1489+216_1489+217delinsAT	NP_000144.2:n.1489+216_1489+217delinsAT
NM_001201401.1:c.1420+216_1420+217delinsAT	NP_001188330.1:n.1420+216_1420+217delinsAT
NM_001201402.1:c.1411+216_1411+217delinsAT	NP_001188331.1:n.1411+216_1411+217delinsAT
XM_011536618.1:c.1321+216_1321+217delinsAT	XP_011534920.1:n.1321+216_1321+217delinsAT
XM_011536618.2:c.1321+216_1321+217delinsAT	XP_011534920.1:n.1321+216_1321+217delinsAT
NM_000153.4:c.1489+216_1489+217delinsAT MANE Select	NP_000144.2:n.1489+216_1489+217delinsAT
NM_001201401.2:c.1420+216_1420+217delinsAT	NP_001188330.1:n.1420+216_1420+217delinsAT
NM_001201402.2:c.1411+216_1411+217delinsAT	NP_001188331.1:n.1411+216_1411+217delinsAT