Canonical Allele Identifier: CA2153356338

Gene: GALC

Linked Data

• dbSNP Id: rs1885030464
• gnomAD v4: 14-87945422-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945424del , CM000676.2:g.87945424del	GRCh38
NC_000014.8:g.88411768del , CM000676.1:g.88411768del	GRCh37
NC_000014.7:g.87481521del	NCBI36
NG_011853.2:g.53141del
NG_011853.3:g.53141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1670+130del MANE Select	ENSP00000261304.2:n.1670+130del
ENST00000261304.6:c.1670+130del	ENSP00000261304.2:n.1670+130del
ENST00000393568.8:c.1601+130del	ENSP00000377198.4:n.1601+130del
ENST00000393569.6:c.1592+130del	ENSP00000377199.2:n.1592+130del
ENST00000544807.6:c.1502+130del	ENSP00000437513.2:n.1502+130del
ENST00000555000.5:c.1037+130del	ENSP00000450472.1:n.1037+130del
ENST00000555179.1:c.206+2305del
ENST00000557316.5:c.*1068+130del	ENSP00000452314.1:n.*1068+130del
NM_000153.3:c.1670+130del	NP_000144.2:n.1670+130del
NM_001201401.1:c.1601+130del	NP_001188330.1:n.1601+130del
NM_001201402.1:c.1592+130del	NP_001188331.1:n.1592+130del
XM_011536618.1:c.1502+130del	XP_011534920.1:n.1502+130del
XM_011536618.2:c.1502+130del	XP_011534920.1:n.1502+130del
NM_000153.4:c.1670+130del MANE Select	NP_000144.2:n.1670+130del
NM_001201401.2:c.1601+130del	NP_001188330.1:n.1601+130del
NM_001201402.2:c.1592+130del	NP_001188331.1:n.1592+130del