Canonical Allele Identifier: CA615271314

Gene: GALC

Linked Data

• dbSNP Id: rs1343482208
• gnomAD v2: 14-88413783-CAA-C
• gnomAD v3: 14-87947439-CAA-C
• gnomAD v4: 14-87947439-CAA-C
• MyVariant Identifiers: chr14:g.88413784_88413785del (hg19) ; chr14:g.87947440_87947441del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947441_87947442del , CM000676.2:g.87947441_87947442del	GRCh38
NC_000014.8:g.88413785_88413786del , CM000676.1:g.88413785_88413786del	GRCh37
NC_000014.7:g.87483538_87483539del	NCBI36
NG_011853.2:g.51123_51124del
NG_011853.3:g.51123_51124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1489+287_1489+288del MANE Select	ENSP00000261304.2:n.1489+287_1489+288del
ENST00000261304.6:c.1489+287_1489+288del	ENSP00000261304.2:n.1489+287_1489+288del
ENST00000393568.8:c.1420+287_1420+288del	ENSP00000377198.4:n.1420+287_1420+288del
ENST00000393569.6:c.1411+287_1411+288del	ENSP00000377199.2:n.1411+287_1411+288del
ENST00000544807.6:c.1321+287_1321+288del	ENSP00000437513.2:n.1321+287_1321+288del
ENST00000555000.5:c.856+287_856+288del	ENSP00000450472.1:n.856+287_856+288del
ENST00000555179.1:c.206+287_206+288del
ENST00000557316.5:c.*887+287_*887+288del	ENSP00000452314.1:n.*887+287_*887+288del
NM_000153.3:c.1489+287_1489+288del	NP_000144.2:n.1489+287_1489+288del
NM_001201401.1:c.1420+287_1420+288del	NP_001188330.1:n.1420+287_1420+288del
NM_001201402.1:c.1411+287_1411+288del	NP_001188331.1:n.1411+287_1411+288del
XM_011536618.1:c.1321+287_1321+288del	XP_011534920.1:n.1321+287_1321+288del
XM_011536618.2:c.1321+287_1321+288del	XP_011534920.1:n.1321+287_1321+288del
NM_000153.4:c.1489+287_1489+288del MANE Select	NP_000144.2:n.1489+287_1489+288del
NM_001201401.2:c.1420+287_1420+288del	NP_001188330.1:n.1420+287_1420+288del
NM_001201402.2:c.1411+287_1411+288del	NP_001188331.1:n.1411+287_1411+288del