Canonical Allele Identifier: CA2507759282

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982060_87982061insTCTATTTTAAAATTCATTAGTTTTGGA , CM000676.2:g.87982060_87982061insTCTATTTTAAAATTCATTAGTTTTGGA	GRCh38
NC_000014.8:g.88448404_88448405insTCTATTTTAAAATTCATTAGTTTTGGA , CM000676.1:g.88448404_88448405insTCTATTTTAAAATTCATTAGTTTTGGA	GRCh37
NC_000014.7:g.87518157_87518158insTCTATTTTAAAATTCATTAGTTTTGGA	NCBI36
NG_011853.2:g.16503_16504insTCCAAAACTAATGAATTTTAAAATAGA
NG_011853.3:g.16503_16504insTCCAAAACTAATGAATTTTAAAATAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.621+144_621+145insTCCAAAACTAATGAATTTTAAAATAGA MANE Select	ENSP00000261304.2:n.621+144_621+145insTCCAAAACTAATGAATTTTAAAA...
ENST00000261304.6:c.621+144_621+145insTCCAAAACTAATGAATTTTAAAATAGA	ENSP00000261304.2:n.621+144_621+145insTCCAAAACTAATGAATTTTAAAA...
ENST00000393568.8:c.552+144_552+145insTCCAAAACTAATGAATTTTAAAATAGA	ENSP00000377198.4:n.552+144_552+145insTCCAAAACTAATGAATTTTAAAA...
ENST00000393569.6:c.543+144_543+145insTCCAAAACTAATGAATTTTAAAATAGA	ENSP00000377199.2:n.543+144_543+145insTCCAAAACTAATGAATTTTAAAA...
ENST00000474294.6:n.611+144_611+145insTCCAAAACTAATGAATTTTAAAATAGA
ENST00000544807.6:c.453+144_453+145insTCCAAAACTAATGAATTTTAAAATAGA	ENSP00000437513.2:n.453+144_453+145insTCCAAAACTAATGAATTTTAAAA...
ENST00000554916.5:n.500+144_500+145insTCCAAAACTAATGAATTTTAAAATAGA
ENST00000556261.5:n.322+144_322+145insTCCAAAACTAATGAATTTTAAAATAGA
ENST00000557316.5:c.621+144_621+145insTCCAAAACTAATGAATTTTAAAATAGA	ENSP00000452314.1:n.621+144_621+145insTCCAAAACTAATGAATTTTAAAA...
ENST00000622264.4:c.611+144_611+145insTCCAAAACTAATGAATTTTAAAATAGA
NM_000153.3:c.621+144_621+145insTCCAAAACTAATGAATTTTAAAATAGA	NP_000144.2:n.621+144_621+145insTCCAAAACTAATGAATTTTAAAATAGA
NM_001201401.1:c.552+144_552+145insTCCAAAACTAATGAATTTTAAAATAGA	NP_001188330.1:n.552+144_552+145insTCCAAAACTAATGAATTTTAAAATAG...
NM_001201402.1:c.543+144_543+145insTCCAAAACTAATGAATTTTAAAATAGA	NP_001188331.1:n.543+144_543+145insTCCAAAACTAATGAATTTTAAAATAG...
XM_011536618.1:c.453+144_453+145insTCCAAAACTAATGAATTTTAAAATAGA	XP_011534920.1:n.453+144_453+145insTCCAAAACTAATGAATTTTAAAATAG...
XM_011536618.2:c.453+144_453+145insTCCAAAACTAATGAATTTTAAAATAGA	XP_011534920.1:n.453+144_453+145insTCCAAAACTAATGAATTTTAAAATAG...
NM_000153.4:c.621+144_621+145insTCCAAAACTAATGAATTTTAAAATAGA MANE Select	NP_000144.2:n.621+144_621+145insTCCAAAACTAATGAATTTTAAAATAGA
NM_001201401.2:c.552+144_552+145insTCCAAAACTAATGAATTTTAAAATAGA	NP_001188330.1:n.552+144_552+145insTCCAAAACTAATGAATTTTAAAATAG...
NM_001201402.2:c.543+144_543+145insTCCAAAACTAATGAATTTTAAAATAGA	NP_001188331.1:n.543+144_543+145insTCCAAAACTAATGAATTTTAAAATAG...