Canonical Allele Identifier: CA2625978786

Gene: GALC

Linked Data

• gnomAD v4: 14-87941441-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941445del , CM000676.2:g.87941445del	GRCh38
NC_000014.8:g.88407789del , CM000676.1:g.88407789del	GRCh37
NC_000014.7:g.87477542del	NCBI36
NG_011853.2:g.57122del
NG_011853.3:g.57122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1787del MANE Select	ENSP00000261304.2:p.Phe596SerfsTer16
ENST00000261304.6:c.1787del	ENSP00000261304.2:p.Phe596SerfsTer16
ENST00000393568.8:c.1718del	ENSP00000377198.4:p.Phe573SerfsTer16
ENST00000393569.6:c.1709del	ENSP00000377199.2:p.Phe570SerfsTer16
ENST00000544807.6:c.1619del	ENSP00000437513.2:p.Phe540SerfsTer16
ENST00000555000.5:c.1154del	ENSP00000450472.1:p.Phe385SerfsTer16
ENST00000555179.1:c.323del
ENST00000557316.5:c.*1185del	ENSP00000452314.1:n.*1185del
NM_000153.3:c.1787del	NP_000144.2:p.Phe596SerfsTer16
NM_001201401.1:c.1718del	NP_001188330.1:p.Phe573SerfsTer16
NM_001201402.1:c.1709del	NP_001188331.1:p.Phe570SerfsTer16
XM_011536618.1:c.1619del	XP_011534920.1:p.Phe540SerfsTer16
XM_011536618.2:c.1619del	XP_011534920.1:p.Phe540SerfsTer16
NM_000153.4:c.1787del MANE Select	NP_000144.2:p.Phe596SerfsTer16
NM_001201401.2:c.1718del	NP_001188330.1:p.Phe573SerfsTer16
NM_001201402.2:c.1709del	NP_001188331.1:p.Phe570SerfsTer16