Canonical Allele Identifier: CA2153381826

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976531_87976532delinsAT , CM000676.2:g.87976531_87976532delinsAT	GRCh38
NC_000014.8:g.88442875_88442876delinsAT , CM000676.1:g.88442875_88442876delinsAT	GRCh37
NC_000014.7:g.87512628_87512629delinsAT	NCBI36
NG_011853.2:g.22032_22033delinsAT
NG_011853.3:g.22032_22033delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-44_622-43delinsAT MANE Select	ENSP00000261304.2:n.622-44_622-43delinsAT
ENST00000261304.6:c.622-44_622-43delinsAT	ENSP00000261304.2:n.622-44_622-43delinsAT
ENST00000393568.8:c.553-44_553-43delinsAT	ENSP00000377198.4:n.553-44_553-43delinsAT
ENST00000393569.6:c.544-44_544-43delinsAT	ENSP00000377199.2:n.544-44_544-43delinsAT
ENST00000474294.6:n.612-44_612-43delinsAT
ENST00000477716.3:n.333_334delinsAT
ENST00000544807.6:c.454-44_454-43delinsAT	ENSP00000437513.2:n.454-44_454-43delinsAT
ENST00000554916.5:n.501-44_501-43delinsAT
ENST00000555000.5:c.-12-44_-12-43delinsAT	ENSP00000450472.1:n.-12-44_-12-43delinsAT
ENST00000557316.5:c.*20-44_*20-43delinsAT	ENSP00000452314.1:n.*20-44_*20-43delinsAT
ENST00000622264.4:c.612-44_612-43delinsAT
NM_000153.3:c.622-44_622-43delinsAT	NP_000144.2:n.622-44_622-43delinsAT
NM_001201401.1:c.553-44_553-43delinsAT	NP_001188330.1:n.553-44_553-43delinsAT
NM_001201402.1:c.544-44_544-43delinsAT	NP_001188331.1:n.544-44_544-43delinsAT
XM_011536618.1:c.454-44_454-43delinsAT	XP_011534920.1:n.454-44_454-43delinsAT
XM_011536618.2:c.454-44_454-43delinsAT	XP_011534920.1:n.454-44_454-43delinsAT
NM_000153.4:c.622-44_622-43delinsAT MANE Select	NP_000144.2:n.622-44_622-43delinsAT
NM_001201401.2:c.553-44_553-43delinsAT	NP_001188330.1:n.553-44_553-43delinsAT
NM_001201402.2:c.544-44_544-43delinsAT	NP_001188331.1:n.544-44_544-43delinsAT