Canonical Allele Identifier: CA2695219638

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976456del , CM000676.2:g.87976456del	GRCh38
NC_000014.8:g.88442800del , CM000676.1:g.88442800del	GRCh37
NC_000014.7:g.87512553del	NCBI36
NG_011853.2:g.22109del
NG_011853.3:g.22109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.655del MANE Select	ENSP00000261304.2:p.Gln219SerfsTer3
ENST00000261304.6:c.655del	ENSP00000261304.2:p.Gln219SerfsTer3
ENST00000393568.8:c.586del	ENSP00000377198.4:p.Gln196SerfsTer3
ENST00000393569.6:c.577del	ENSP00000377199.2:p.Gln193SerfsTer3
ENST00000474294.6:n.645del
ENST00000477716.3:n.410del
ENST00000544807.6:c.487del	ENSP00000437513.2:p.Gln163SerfsTer3
ENST00000554916.5:n.534del
ENST00000555000.5:c.22del	ENSP00000450472.1:p.Gln8SerfsTer3
ENST00000557316.5:c.*53del	ENSP00000452314.1:n.*53del
ENST00000622264.4:c.645del
NM_000153.3:c.655del	NP_000144.2:p.Gln219SerfsTer3
NM_001201401.1:c.586del	NP_001188330.1:p.Gln196SerfsTer3
NM_001201402.1:c.577del	NP_001188331.1:p.Gln193SerfsTer3
XM_011536618.1:c.487del	XP_011534920.1:p.Gln163SerfsTer3
XM_011536618.2:c.487del	XP_011534920.1:p.Gln163SerfsTer3
NM_000153.4:c.655del MANE Select	NP_000144.2:p.Gln219SerfsTer3
NM_001201401.2:c.586del	NP_001188330.1:p.Gln196SerfsTer3
NM_001201402.2:c.577del	NP_001188331.1:p.Gln193SerfsTer3