Canonical Allele Identifier: CA2153356990

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945728_87945763delinsGGTAATCTGTTCAGAATGTAAGAAATTCTCTGTTTA , CM000676.2:g.87945728_87945763delinsGGTAATCTGTTCAGAATGTAAGAAATTCTCTGTTTA	GRCh38
NC_000014.8:g.88412072_88412107delinsGGTAATCTGTTCAGAATGTAAGAAATTCTCTGTTTA , CM000676.1:g.88412072_88412107delinsGGTAATCTGTTCAGAATGTAAGAAATTCTCTGTTTA	GRCh37
NC_000014.7:g.87481825_87481860delinsGGTAATCTGTTCAGAATGTAAGAAATTCTCTGTTTA	NCBI36
NG_011853.2:g.52801_52836delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
NG_011853.3:g.52801_52836delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1490-30_1495delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
ENST00000261304.6:c.1490-30_1495delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
ENST00000393568.8:c.1421-30_1426delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
ENST00000393569.6:c.1412-30_1417delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
ENST00000544807.6:c.1322-30_1327delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
ENST00000555000.5:c.857-30_862delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
ENST00000555179.1:c.206+1965_206+2000delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
ENST00000557316.5:c.*888-30_*893delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
NM_000153.3:c.1490-30_1495delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
NM_001201401.1:c.1421-30_1426delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
NM_001201402.1:c.1412-30_1417delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
XM_011536618.1:c.1322-30_1327delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
XM_011536618.2:c.1322-30_1327delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
NM_000153.4:c.1490-30_1495delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
NM_001201401.2:c.1421-30_1426delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC
NM_001201402.2:c.1412-30_1417delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC