Canonical Allele Identifier: CA2813446057
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682034_6682144del , CM000681.2:g.6682034_6682144del GRCh38
NC_000019.9:g.6682045_6682155del , CM000681.1:g.6682045_6682155del GRCh37
NC_000019.8:g.6633045_6633155del NCBI36
NG_009557.1:g.43511_43621del , LRG_27:g.43511_43621del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2608+1_2609-1del
ENST00000695653.1:c.2169+1_2170-1del
ENST00000695654.1:c.3285+1_3286-1del
ENST00000695689.1:c.231+1_232-1del
ENST00000695690.1:n.451+1_452-1del
ENST00000695691.1:n.451+1_452-1del
ENST00000245907.11:c.4260+1_4261-1del
ENST00000245907.10:c.4260+1_4261-1del
ENST00000596548.1:c.381+1_382-1del
ENST00000599899.5:n.1219+1_1220-1del
ENST00000601008.1:c.242-4183_242-4073del ENSP00000471384.1:n.242-4183_242-4073del
NM_000064.3:c.4260+1_4261-1del
NM_000064.4:c.4260+1_4261-1del