Canonical Allele Identifier: CA2568748500

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87933201_87933202insTTGTGTGATTCAGTGGTTTGTTCCTTCTTATTTCTG , CM000676.2:g.87933201_87933202insTTGTGTGATTCAGTGGTTTGTTCCTTCTTATTTCTG	GRCh38
NC_000014.8:g.88399545_88399546insTTGTGTGATTCAGTGGTTTGTTCCTTCTTATTTCTG , CM000676.1:g.88399545_88399546insTTGTGTGATTCAGTGGTTTGTTCCTTCTTATTTCTG	GRCh37
NC_000014.7:g.87469298_87469299insTTGTGTGATTCAGTGGTTTGTTCCTTCTTATTTCTG	NCBI36
NG_011853.2:g.65364_65365insGAAATAAGAAGGAACAAACCACTGAATCACACAACA
NG_011853.3:g.65364_65365insGAAATAAGAAGGAACAAACCACTGAATCACACAACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.*1532_*1533insGAAATAAGAAGGAACAAACCACTGAATCACACAACA MANE Select	ENSP00000261304.2:n.*1532_*1533insGAAATAA...
ENST00000261304.6:c.*1532_*1533insGAAATAAGAAGGAACAAACCACTGAATCACACAACA	ENSP00000261304.2:n.*1532_*1533insGAAATAA...
ENST00000555000.5:c.*74+699_*74+700insGAAATAAGAAGGAACAAACCACTGAATCACACAACA	ENSP00000450472.1:n.*74+699_*74+700insGAA...
NM_000153.3:c.*1532_*1533insGAAATAAGAAGGAACAAACCACTGAATCACACAACA	NP_000144.2:n.*1532_*1533insGAAATAAGAAGGA...
NM_001201401.1:c.*1532_*1533insGAAATAAGAAGGAACAAACCACTGAATCACACAACA	NP_001188330.1:n.*1532_*1533insGAAATAAGAA...
NM_001201402.1:c.*1532_*1533insGAAATAAGAAGGAACAAACCACTGAATCACACAACA	NP_001188331.1:n.*1532_*1533insGAAATAAGAA...
XM_011536618.1:c.*1532_*1533insGAAATAAGAAGGAACAAACCACTGAATCACACAACA	XP_011534920.1:n.*1532_*1533insGAAATAAGAA...
XM_011536618.2:c.*1532_*1533insGAAATAAGAAGGAACAAACCACTGAATCACACAACA	XP_011534920.1:n.*1532_*1533insGAAATAAGAA...
NM_000153.4:c.*1532_*1533insGAAATAAGAAGGAACAAACCACTGAATCACACAACA MANE Select	NP_000144.2:n.*1532_*1533insGAAATAAGAAGGA...
NM_001201401.2:c.*1532_*1533insGAAATAAGAAGGAACAAACCACTGAATCACACAACA	NP_001188330.1:n.*1532_*1533insGAAATAAGAA...
NM_001201402.2:c.*1532_*1533insGAAATAAGAAGGAACAAACCACTGAATCACACAACA	NP_001188331.1:n.*1532_*1533insGAAATAAGAA...