Canonical Allele Identifier: CA2153381872

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976633_87976635delinsCAG , CM000676.2:g.87976633_87976635delinsCAG	GRCh38
NC_000014.8:g.88442977_88442979delinsCAG , CM000676.1:g.88442977_88442979delinsCAG	GRCh37
NC_000014.7:g.87512730_87512732delinsCAG	NCBI36
NG_011853.2:g.21929_21931delinsCTG
NG_011853.3:g.21929_21931delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-147_622-145delinsCTG MANE Select	ENSP00000261304.2:n.622-147_622-145delinsCTG
ENST00000261304.6:c.622-147_622-145delinsCTG	ENSP00000261304.2:n.622-147_622-145delinsCTG
ENST00000393568.8:c.553-147_553-145delinsCTG	ENSP00000377198.4:n.553-147_553-145delinsCTG
ENST00000393569.6:c.544-147_544-145delinsCTG	ENSP00000377199.2:n.544-147_544-145delinsCTG
ENST00000474294.6:n.612-147_612-145delinsCTG
ENST00000477716.3:n.230_232delinsCTG
ENST00000544807.6:c.454-147_454-145delinsCTG	ENSP00000437513.2:n.454-147_454-145delinsCTG
ENST00000554916.5:n.501-147_501-145delinsCTG
ENST00000555000.5:c.-12-147_-12-145delinsCTG	ENSP00000450472.1:n.-12-147_-12-145delinsCTG
ENST00000557316.5:c.*20-147_*20-145delinsCTG	ENSP00000452314.1:n.*20-147_*20-145delinsCTG
ENST00000622264.4:c.612-147_612-145delinsCTG
NM_000153.3:c.622-147_622-145delinsCTG	NP_000144.2:n.622-147_622-145delinsCTG
NM_001201401.1:c.553-147_553-145delinsCTG	NP_001188330.1:n.553-147_553-145delinsCTG
NM_001201402.1:c.544-147_544-145delinsCTG	NP_001188331.1:n.544-147_544-145delinsCTG
XM_011536618.1:c.454-147_454-145delinsCTG	XP_011534920.1:n.454-147_454-145delinsCTG
XM_011536618.2:c.454-147_454-145delinsCTG	XP_011534920.1:n.454-147_454-145delinsCTG
NM_000153.4:c.622-147_622-145delinsCTG MANE Select	NP_000144.2:n.622-147_622-145delinsCTG
NM_001201401.2:c.553-147_553-145delinsCTG	NP_001188330.1:n.553-147_553-145delinsCTG
NM_001201402.2:c.544-147_544-145delinsCTG	NP_001188331.1:n.544-147_544-145delinsCTG