Canonical Allele Identifier: CA2153346378
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87968207_87968244delinsCGCTAACAAGGCAAAATGTTTACAATCATTGAATCTAG , CM000676.2:g.87968207_87968244delinsCGCTAACAAGGCAAAATGTTTACAATCATTGAATCTAG GRCh38
NC_000014.8:g.88434551_88434588delinsCGCTAACAAGGCAAAATGTTTACAATCATTGAATCTAG , CM000676.1:g.88434551_88434588delinsCGCTAACAAGGCAAAATGTTTACAATCATTGAATCTAG GRCh37
NC_000014.7:g.87504304_87504341delinsCGCTAACAAGGCAAAATGTTTACAATCATTGAATCTAG NCBI36
NG_011853.2:g.30320_30357delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG
NG_011853.3:g.30320_30357delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.908+91_908+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG MANE Select ENSP00000261304.2:n.908+91_908+128delinsCTAGATTCAATGATTGTAAAC...
ENST00000261304.6:c.908+91_908+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG ENSP00000261304.2:n.908+91_908+128delinsCTAGATTCAATGATTGTAAAC...
ENST00000393568.8:c.839+91_839+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG ENSP00000377198.4:n.839+91_839+128delinsCTAGATTCAATGATTGTAAAC...
ENST00000393569.6:c.830+91_830+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG ENSP00000377199.2:n.830+91_830+128delinsCTAGATTCAATGATTGTAAAC...
ENST00000474294.6:n.898+91_898+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG
ENST00000544807.6:c.740+91_740+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG ENSP00000437513.2:n.740+91_740+128delinsCTAGATTCAATGATTGTAAAC...
ENST00000555000.5:c.275+91_275+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG ENSP00000450472.1:n.275+91_275+128delinsCTAGATTCAATGATTGTAAAC...
ENST00000557316.5:c.*306+91_*306+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG ENSP00000452314.1:n.*306+91_*306+128delinsCTAGATTCAATGATTGTAA...
ENST00000622264.4:c.898+91_898+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG
NM_000153.3:c.908+91_908+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG NP_000144.2:n.908+91_908+128delinsCTAGATTCAATGATTGTAAACATTTTG...
NM_001201401.1:c.839+91_839+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG NP_001188330.1:n.839+91_839+128delinsCTAGATTCAATGATTGTAAACATT...
NM_001201402.1:c.830+91_830+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG NP_001188331.1:n.830+91_830+128delinsCTAGATTCAATGATTGTAAACATT...
XM_011536618.1:c.740+91_740+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG XP_011534920.1:n.740+91_740+128delinsCTAGATTCAATGATTGTAAACATT...
XM_011536618.2:c.740+91_740+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG XP_011534920.1:n.740+91_740+128delinsCTAGATTCAATGATTGTAAACATT...
NM_000153.4:c.908+91_908+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG MANE Select NP_000144.2:n.908+91_908+128delinsCTAGATTCAATGATTGTAAACATTTTG...
NM_001201401.2:c.839+91_839+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG NP_001188330.1:n.839+91_839+128delinsCTAGATTCAATGATTGTAAACATT...
NM_001201402.2:c.830+91_830+128delinsCTAGATTCAATGATTGTAAACATTTTGCCTTGTTAGCG NP_001188331.1:n.830+91_830+128delinsCTAGATTCAATGATTGTAAACATT...