Canonical Allele Identifier: CA2625960320

Gene: GALC

Linked Data

• gnomAD v4: 14-87976421-CAGAGATTATCACTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976422_87976435del , CM000676.2:g.87976422_87976435del	GRCh38
NC_000014.8:g.88442766_88442779del , CM000676.1:g.88442766_88442779del	GRCh37
NC_000014.7:g.87512519_87512532del	NCBI36
NG_011853.2:g.22129_22142del
NG_011853.3:g.22129_22142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.675_688del MANE Select	ENSP00000261304.2:p.Ser226GlyfsTer10
ENST00000261304.6:c.675_688del	ENSP00000261304.2:p.Ser226GlyfsTer10
ENST00000393568.8:c.606_619del	ENSP00000377198.4:p.Ser203GlyfsTer10
ENST00000393569.6:c.597_610del	ENSP00000377199.2:p.Ser200GlyfsTer10
ENST00000474294.6:n.665_678del
ENST00000477716.3:n.430_443del
ENST00000544807.6:c.507_520del	ENSP00000437513.2:p.Ser170GlyfsTer10
ENST00000554916.5:n.554_567del
ENST00000555000.5:c.42_55del	ENSP00000450472.1:p.Ser15GlyfsTer10
ENST00000557316.5:c.*73_*86del	ENSP00000452314.1:n.*73_*86del
ENST00000622264.4:c.665_678del
NM_000153.3:c.675_688del	NP_000144.2:p.Ser226GlyfsTer10
NM_001201401.1:c.606_619del	NP_001188330.1:p.Ser203GlyfsTer10
NM_001201402.1:c.597_610del	NP_001188331.1:p.Ser200GlyfsTer10
XM_011536618.1:c.507_520del	XP_011534920.1:p.Ser170GlyfsTer10
XM_011536618.2:c.507_520del	XP_011534920.1:p.Ser170GlyfsTer10
NM_000153.4:c.675_688del MANE Select	NP_000144.2:p.Ser226GlyfsTer10
NM_001201401.2:c.606_619del	NP_001188330.1:p.Ser203GlyfsTer10
NM_001201402.2:c.597_610del	NP_001188331.1:p.Ser200GlyfsTer10