Canonical Allele Identifier: CA2500853961

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976493_87976494del , CM000676.2:g.87976493_87976494del	GRCh38
NC_000014.8:g.88442837_88442838del , CM000676.1:g.88442837_88442838del	GRCh37
NC_000014.7:g.87512590_87512591del	NCBI36
NG_011853.2:g.22070_22071del
NG_011853.3:g.22070_22071del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.622-6_622-5del MANE Select	ENSP00000261304.2:n.622-6_622-5del
ENST00000261304.6:c.622-6_622-5del	ENSP00000261304.2:n.622-6_622-5del
ENST00000393568.8:c.553-6_553-5del	ENSP00000377198.4:n.553-6_553-5del
ENST00000393569.6:c.544-6_544-5del	ENSP00000377199.2:n.544-6_544-5del
ENST00000474294.6:n.612-6_612-5del
ENST00000477716.3:n.371_372del
ENST00000544807.6:c.454-6_454-5del	ENSP00000437513.2:n.454-6_454-5del
ENST00000554916.5:n.501-6_501-5del
ENST00000555000.5:c.-12-6_-12-5del	ENSP00000450472.1:n.-12-6_-12-5del
ENST00000557316.5:c.*20-6_*20-5del	ENSP00000452314.1:n.*20-6_*20-5del
ENST00000622264.4:c.612-6_612-5del
NM_000153.3:c.622-6_622-5del	NP_000144.2:n.622-6_622-5del
NM_001201401.1:c.553-6_553-5del	NP_001188330.1:n.553-6_553-5del
NM_001201402.1:c.544-6_544-5del	NP_001188331.1:n.544-6_544-5del
XM_011536618.1:c.454-6_454-5del	XP_011534920.1:n.454-6_454-5del
XM_011536618.2:c.454-6_454-5del	XP_011534920.1:n.454-6_454-5del
NM_000153.4:c.622-6_622-5del MANE Select	NP_000144.2:n.622-6_622-5del
NM_001201401.2:c.553-6_553-5del	NP_001188330.1:n.553-6_553-5del
NM_001201402.2:c.544-6_544-5del	NP_001188331.1:n.544-6_544-5del