Canonical Allele Identifier: CA2320553437
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686118_6686121delinsACTT , CM000681.2:g.6686118_6686121delinsACTT GRCh38
NC_000019.9:g.6686129_6686132delinsACTT , CM000681.1:g.6686129_6686132delinsACTT GRCh37
NC_000019.8:g.6637129_6637132delinsACTT NCBI36
NG_009557.1:g.39531_39534delinsAAGT , LRG_27:g.39531_39534delinsAAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2158+3_2158+6delinsAAGT
ENST00000695653.1:c.1719+3_1719+6delinsAAGT ENSP00000512084.1:n.1719+3_1719+6delinsAAGT
ENST00000695654.1:c.2835+3_2835+6delinsAAGT ENSP00000512085.1:n.2835+3_2835+6delinsAAGT
ENST00000695692.1:n.3177_3180delinsAAGT
ENST00000245907.11:c.3810+3_3810+6delinsAAGT MANE Select ENSP00000245907.4:n.3810+3_3810+6delinsAAGT
ENST00000245907.10:c.3810+3_3810+6delinsAAGT ENSP00000245907.4:n.3810+3_3810+6delinsAAGT
ENST00000596238.1:n.253+3_253+6delinsAAGT
ENST00000601008.1:c.241+625_241+628delinsAAGT ENSP00000471384.1:n.241+625_241+628delinsAAGT
NM_000064.3:c.3810+3_3810+6delinsAAGT NP_000055.2:n.3810+3_3810+6delinsAAGT
NM_000064.4:c.3810+3_3810+6delinsAAGT MANE Select NP_000055.2:n.3810+3_3810+6delinsAAGT