Canonical Allele Identifier: CA1876862507
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120954277_120954278delinsCA , CM000671.2:g.120954277_120954278delinsCA GRCh38
NC_000009.11:g.123716555_123716556delinsCA , CM000671.1:g.123716555_123716556delinsCA GRCh37
NC_000009.10:g.122756376_122756377delinsCA NCBI36
NG_007364.1:g.100999_101000delinsTG , LRG_28:g.100999_101000delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.4803_4804delinsTG
ENST00000696279.1:c.5083-410_5083-409delinsTG
ENST00000696280.1:n.4852-410_4852-409delinsTG
ENST00000696281.1:c.4781-410_4781-409delinsTG ENSP00000512521.1:n.4781-410_4781-409delinsTG
ENST00000697921.1:n.3641-410_3641-409delinsTG
ENST00000697922.1:c.*4753-410_*4753-409delinsTG ENSP00000513478.1:n.*4753-410_*4753-409delinsTG
ENST00000697923.1:n.8214_8215delinsTG
ENST00000223642.3:c.4763-410_4763-409delinsTG MANE Select ENSP00000223642.1:n.4763-410_4763-409delinsTG
ENST00000223642.2:c.4763-410_4763-409delinsTG ENSP00000223642.1:n.4763-410_4763-409delinsTG
NM_001735.2:c.4763-410_4763-409delinsTG , LRG_28t1:c.4763-410_4763-409delinsTG NP_001726.2:n.4763-410_4763-409delinsTG
XM_011518980.1:c.4778-410_4778-409delinsTG XP_011517282.1:n.4778-410_4778-409delinsTG
NM_001317163.1:c.4781-410_4781-409delinsTG NP_001304092.1:n.4781-410_4781-409delinsTG
NM_001317163.2:c.4781-410_4781-409delinsTG NP_001304092.1:n.4781-410_4781-409delinsTG
NM_001735.3:c.4763-410_4763-409delinsTG MANE Select NP_001726.2:n.4763-410_4763-409delinsTG