Canonical Allele Identifier: CA993077812

Gene: C3

Linked Data

• gnomAD v3: 19-6713651-GGCCCCACCCCCAGCCCCCCACCTTGCCCCACTCCCACCCCCCACATGGTCCCACCTCCAGCCCCTCACCTGGCCCCACCCCCAGCCCCCCACCTTCCCCACTCCCAGCCCCCACCTGACTCCACCCCCCAGCCCCCCACCTGGTCCCACCCCCAGCCCCTCACCTT-G
• gnomAD v4: 19-6713651-GGCCCCACCCCCAGCCCCCCACCTTGCCCCACTCCCACCCCCCACATGGTCCCACCTCCAGCCCCTCACCTGGCCCCACCCCCAGCCCCCCACCTTCCCCACTCCCAGCCCCCACCTGACTCCACCCCCCAGCCCCCCACCTGGTCCCACCCCCAGCCCCTCACCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713676_6713841del , CM000681.2:g.6713676_6713841del	GRCh38
NC_000019.9:g.6713687_6713852del , CM000681.1:g.6713687_6713852del	GRCh37
NC_000019.8:g.6664687_6664852del	NCBI36
NG_009557.1:g.11835_12000del , LRG_27:g.11835_12000del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.650+175_651-143del	ENSP00000512083.1:n.650+175_651-143del
ENST00000245907.11:c.773+175_774-143del MANE Select	ENSP00000245907.4:n.773+175_774-143del
ENST00000245907.10:c.773+175_774-143del	ENSP00000245907.4:n.773+175_774-143del
ENST00000595577.1:n.277+175_278-143del
NM_000064.3:c.773+175_774-143del	NP_000055.2:n.773+175_774-143del
NM_000064.4:c.773+175_774-143del MANE Select	NP_000055.2:n.773+175_774-143del