Canonical Allele Identifier: CA993077835

Gene: C3

Linked Data

• gnomAD v3: 19-6713654-CCCACCCCCAGCCCCCCACCTTGCCCCACTCCCACCCCCCACATGGTCCCACCTCCAGCCCCTCACCTGGCCCCACCCCCAGCCCCCCACCTTCCCCACTCCCAGCCCCCACCTGACTCCACCCCCCAGCCCCCCACCTGGTCCCACCCCCAGCCCCTCACCTTGCCCCACCCCCAGCCCCCCACCTTCCCCACCCCCAGCCCCCCACCTGACT-C
• gnomAD v4: 19-6713654-CCCACCCCCAGCCCCCCACCTTGCCCCACTCCCACCCCCCACATGGTCCCACCTCCAGCCCCTCACCTGGCCCCACCCCCAGCCCCCCACCTTCCCCACTCCCAGCCCCCACCTGACTCCACCCCCCAGCCCCCCACCTGGTCCCACCCCCAGCCCCTCACCTTGCCCCACCCCCAGCCCCCCACCTTCCCCACCCCCAGCCCCCCACCTGACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713675_6713887del , CM000681.2:g.6713675_6713887del	GRCh38
NC_000019.9:g.6713686_6713898del , CM000681.1:g.6713686_6713898del	GRCh37
NC_000019.8:g.6664686_6664898del	NCBI36
NG_009557.1:g.11785_11997del , LRG_27:g.11785_11997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.650+125_651-146del	ENSP00000512083.1:n.650+125_651-146del
ENST00000245907.11:c.773+125_774-146del MANE Select	ENSP00000245907.4:n.773+125_774-146del
ENST00000245907.10:c.773+125_774-146del	ENSP00000245907.4:n.773+125_774-146del
ENST00000595577.1:n.277+125_278-146del
NM_000064.3:c.773+125_774-146del	NP_000055.2:n.773+125_774-146del
NM_000064.4:c.773+125_774-146del MANE Select	NP_000055.2:n.773+125_774-146del