Canonical Allele Identifier: CA2320561753
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6701380_6701423delinsACATGCTTACAAGTGACACCCACTCACGCCCCTTCACGAAAAAT , CM000681.2:g.6701380_6701423delinsACATGCTTACAAGTGACACCCACTCACGCCCCTTCACGAAAAAT GRCh38
NC_000019.9:g.6701391_6701434delinsACATGCTTACAAGTGACACCCACTCACGCCCCTTCACGAAAAAT , CM000681.1:g.6701391_6701434delinsACATGCTTACAAGTGACACCCACTCACGCCCCTTCACGAAAAAT GRCh37
NC_000019.8:g.6652391_6652434delinsACATGCTTACAAGTGACACCCACTCACGCCCCTTCACGAAAAAT NCBI36
NG_009557.1:g.24229_24272delinsATTTTTCGTGAAGGGGCGTGAGTGGGTGTCACTTGTAAGCATGT , LRG_27:g.24229_24272delinsATTTTTCGTGAAGGGGCGTGAGTGGGTGTCACTTGTAAGCATGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.788+704_788+747delinsATTTTTCGTGAAGGGGCGTGAGTGGGTGTCACTTGTAAGCATGT
ENST00000695652.1:c.2317+704_2317+747delinsATTTTTCGTGAAGGGGCGTGAGTGGGTGTCACTTGTAAGCATGT ENSP00000512083.1:n.2317+704_2317+747delinsATTTTTCGTGAAGGGGCG...
ENST00000695653.1:c.349+704_349+747delinsATTTTTCGTGAAGGGGCGTGAGTGGGTGTCACTTGTAAGCATGT ENSP00000512084.1:n.349+704_349+747delinsATTTTTCGTGAAGGGGCGTG...
ENST00000695654.1:c.1564+704_1564+747delinsATTTTTCGTGAAGGGGCGTGAGTGGGTGTCACTTGTAAGCATGT ENSP00000512085.1:n.1564+704_1564+747delinsATTTTTCGTGAAGGGGCG...
ENST00000695655.1:c.1381+704_1381+747delinsATTTTTCGTGAAGGGGCGTGAGTGGGTGTCACTTGTAAGCATGT ENSP00000512086.1:n.1381+704_1381+747delinsATTTTTCGTGAAGGGGCG...
ENST00000695692.1:n.1804+704_1804+747delinsATTTTTCGTGAAGGGGCGTGAGTGGGTGTCACTTGTAAGCATGT
ENST00000245907.11:c.2440+704_2440+747delinsATTTTTCGTGAAGGGGCGTGAGTGGGTGTCACTTGTAAGCATGT MANE Select ENSP00000245907.4:n.2440+704_2440+747delinsATTTTTCGTGAAGGGGCG...
ENST00000245907.10:c.2440+704_2440+747delinsATTTTTCGTGAAGGGGCGTGAGTGGGTGTCACTTGTAAGCATGT ENSP00000245907.4:n.2440+704_2440+747delinsATTTTTCGTGAAGGGGCG...
ENST00000602053.1:n.488+704_488+747delinsATTTTTCGTGAAGGGGCGTGAGTGGGTGTCACTTGTAAGCATGT
NM_000064.3:c.2440+704_2440+747delinsATTTTTCGTGAAGGGGCGTGAGTGGGTGTCACTTGTAAGCATGT NP_000055.2:n.2440+704_2440+747delinsATTTTTCGTGAAGGGGCGTGAGTG...
NM_000064.4:c.2440+704_2440+747delinsATTTTTCGTGAAGGGGCGTGAGTGGGTGTCACTTGTAAGCATGT MANE Select NP_000055.2:n.2440+704_2440+747delinsATTTTTCGTGAAGGGGCGTGAGTG...