Canonical Allele Identifier: CA1876865691
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962392_120962393delinsCT , CM000671.2:g.120962392_120962393delinsCT GRCh38
NC_000009.11:g.123724670_123724671delinsCT , CM000671.1:g.123724670_123724671delinsCT GRCh37
NC_000009.10:g.122764491_122764492delinsCT NCBI36
NG_007364.1:g.92884_92885delinsAG , LRG_28:g.92884_92885delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1538+278_1538+279delinsAG
ENST00000696279.1:c.4824+278_4824+279delinsAG
ENST00000696280.1:n.4593+278_4593+279delinsAG
ENST00000696281.1:c.4522+278_4522+279delinsAG ENSP00000512521.1:n.4522+278_4522+279delinsAG
ENST00000697921.1:n.3382+278_3382+279delinsAG
ENST00000697922.1:c.*4494+278_*4494+279delinsAG ENSP00000513478.1:n.*4494+278_*4494+279delinsAG
ENST00000697923.1:n.4949+278_4949+279delinsAG
ENST00000223642.3:c.4504+278_4504+279delinsAG MANE Select ENSP00000223642.1:n.4504+278_4504+279delinsAG
ENST00000223642.2:c.4504+278_4504+279delinsAG ENSP00000223642.1:n.4504+278_4504+279delinsAG
ENST00000480188.1:n.37+278_37+279delinsAG
NM_001735.2:c.4504+278_4504+279delinsAG , LRG_28t1:c.4504+278_4504+279delinsAG NP_001726.2:n.4504+278_4504+279delinsAG
XM_011518980.1:c.4519+278_4519+279delinsAG XP_011517282.1:n.4519+278_4519+279delinsAG
NM_001317163.1:c.4522+278_4522+279delinsAG NP_001304092.1:n.4522+278_4522+279delinsAG
NM_001317163.2:c.4522+278_4522+279delinsAG NP_001304092.1:n.4522+278_4522+279delinsAG
NM_001735.3:c.4504+278_4504+279delinsAG MANE Select NP_001726.2:n.4504+278_4504+279delinsAG