Canonical Allele Identifier: CA993078031
Gene: C3 HGNC NCBI

Linked Data

gnomAD v3: 19-6713811-TCACCTTGCCCCACCCCCAGCCCCCCACCTTCCCCACCCCCAGCCCCCCACCTGACTCCACC-T
gnomAD v4: 19-6713811-TCACCTTGCCCCACCCCCAGCCCCCCACCTTCCCCACCCCCAGCCCCCCACCTGACTCCACC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713813_6713873del , CM000681.2:g.6713813_6713873del GRCh38
NC_000019.9:g.6713824_6713884del , CM000681.1:g.6713824_6713884del GRCh37
NC_000019.8:g.6664824_6664884del NCBI36
NG_009557.1:g.11780_11840del , LRG_27:g.11780_11840del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.650+120_650+180del ENSP00000512083.1:n.650+120_650+180del
ENST00000245907.11:c.773+120_773+180del MANE Select ENSP00000245907.4:n.773+120_773+180del
ENST00000245907.10:c.773+120_773+180del ENSP00000245907.4:n.773+120_773+180del
ENST00000595577.1:n.277+120_277+180del
NM_000064.3:c.773+120_773+180del NP_000055.2:n.773+120_773+180del
NM_000064.4:c.773+120_773+180del MANE Select NP_000055.2:n.773+120_773+180del
Search 100 bp 5'
Search 100 bp 3'