Canonical Allele Identifier: CA2529881028
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120954305_120954306insGGGG , CM000671.2:g.120954305_120954306insGGGG GRCh38
NC_000009.11:g.123716583_123716584insGGGG , CM000671.1:g.123716583_123716584insGGGG GRCh37
NC_000009.10:g.122756404_122756405insGGGG NCBI36
NG_007364.1:g.100971_100972insCCCC , LRG_28:g.100971_100972insCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.4775_4776insCCCC
ENST00000696279.1:c.5083-438_5083-437insCCCC
ENST00000696280.1:n.4852-438_4852-437insCCCC
ENST00000696281.1:c.4781-438_4781-437insCCCC ENSP00000512521.1:n.4781-438_4781-437insCCCC
ENST00000697921.1:n.3641-438_3641-437insCCCC
ENST00000697922.1:c.*4753-438_*4753-437insCCCC ENSP00000513478.1:n.*4753-438_*4753-437insCCCC
ENST00000697923.1:n.8186_8187insCCCC
ENST00000223642.3:c.4763-438_4763-437insCCCC MANE Select ENSP00000223642.1:n.4763-438_4763-437insCCCC
ENST00000223642.2:c.4763-438_4763-437insCCCC ENSP00000223642.1:n.4763-438_4763-437insCCCC
NM_001735.2:c.4763-438_4763-437insCCCC , LRG_28t1:c.4763-438_4763-437insCCCC NP_001726.2:n.4763-438_4763-437insCCCC
XM_011518980.1:c.4778-438_4778-437insCCCC XP_011517282.1:n.4778-438_4778-437insCCCC
NM_001317163.1:c.4781-438_4781-437insCCCC NP_001304092.1:n.4781-438_4781-437insCCCC
NM_001317163.2:c.4781-438_4781-437insCCCC NP_001304092.1:n.4781-438_4781-437insCCCC
NM_001735.3:c.4763-438_4763-437insCCCC MANE Select NP_001726.2:n.4763-438_4763-437insCCCC