Canonical Allele Identifier: CA2695219699

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982207_87982245del , CM000676.2:g.87982207_87982245del	GRCh38
NC_000014.8:g.88448551_88448589del , CM000676.1:g.88448551_88448589del	GRCh37
NC_000014.7:g.87518304_87518342del	NCBI36
NG_011853.2:g.16321_16359del
NG_011853.3:g.16321_16359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.583_621del
ENST00000261304.6:c.583_621del
ENST00000393568.8:c.514_552del
ENST00000393569.6:c.505_543del
ENST00000474294.6:n.573_611del
ENST00000544807.6:c.415_453del
ENST00000554372.5:c.*332_*370del
ENST00000554916.5:n.462_500del
ENST00000556261.5:n.284_322del
ENST00000557316.5:c.583_621del
ENST00000622264.4:c.573_611del
NM_000153.3:c.583_621del
NM_001201401.1:c.514_552del
NM_001201402.1:c.505_543del
XM_011536618.1:c.415_453del
XM_011536618.2:c.415_453del
NM_000153.4:c.583_621del
NM_001201401.2:c.514_552del
NM_001201402.2:c.505_543del