Canonical Allele Identifier: CA2802491672

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87933181_87933182del , CM000676.2:g.87933181_87933182del	GRCh38
NC_000014.8:g.88399525_88399526del , CM000676.1:g.88399525_88399526del	GRCh37
NC_000014.7:g.87469278_87469279del	NCBI36
NG_011853.2:g.65382_65383del
NG_011853.3:g.65382_65383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*1550_*1551del MANE Select	ENSP00000261304.2:n.*1550_*1551del
ENST00000261304.6:c.*1550_*1551del	ENSP00000261304.2:n.*1550_*1551del
ENST00000555000.5:c.*74+717_*74+718del	ENSP00000450472.1:n.*74+717_*74+718del
NM_000153.3:c.*1550_*1551del	NP_000144.2:n.*1550_*1551del
NM_001201401.1:c.*1550_*1551del	NP_001188330.1:n.*1550_*1551del
NM_001201402.1:c.*1550_*1551del	NP_001188331.1:n.*1550_*1551del
XM_011536618.1:c.*1550_*1551del	XP_011534920.1:n.*1550_*1551del
XM_011536618.2:c.*1550_*1551del	XP_011534920.1:n.*1550_*1551del
NM_000153.4:c.*1550_*1551del MANE Select	NP_000144.2:n.*1550_*1551del
NM_001201401.2:c.*1550_*1551del	NP_001188330.1:n.*1550_*1551del
NM_001201402.2:c.*1550_*1551del	NP_001188331.1:n.*1550_*1551del