Canonical Allele Identifier: CA2547214232

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988523_87988525del , CM000676.2:g.87988523_87988525del	GRCh38
NC_000014.8:g.88454867_88454869del , CM000676.1:g.88454867_88454869del	GRCh37
NC_000014.7:g.87524620_87524622del	NCBI36
NG_011853.2:g.10039_10041del
NG_011853.3:g.10039_10041del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.196-2_196del
ENST00000261304.6:c.196-2_196del
ENST00000393568.8:c.196-318_196-316del	ENSP00000377198.4:n.196-318_196-316del
ENST00000393569.6:c.118-2_118del
ENST00000474294.6:n.186-2_186del
ENST00000544807.6:c.28-2_28del
ENST00000554372.5:c.196-2_196del
ENST00000554916.5:n.75-2_75del
ENST00000556879.5:c.256-2_256del
ENST00000557316.5:c.196-2_196del
ENST00000622264.4:c.186-2_186del
NM_000153.3:c.196-2_196del
NM_001201401.1:c.196-318_196-316del	NP_001188330.1:n.196-318_196-316del
NM_001201402.1:c.118-2_118del
XM_011536618.1:c.28-2_28del
XM_011536618.2:c.28-2_28del
NM_000153.4:c.196-2_196del
NM_001201401.2:c.196-318_196-316del	NP_001188330.1:n.196-318_196-316del
NM_001201402.2:c.118-2_118del