Canonical Allele Identifier: CA2785814912

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962730_120962731insTCTATGGT , CM000671.2:g.120962730_120962731insTCTATGGT	GRCh38
NC_000009.11:g.123725008_123725009insTCTATGGT , CM000671.1:g.123725008_123725009insTCTATGGT	GRCh37
NC_000009.10:g.122764829_122764830insTCTATGGT	NCBI36
NG_007364.1:g.92546_92547insACCATAGA , LRG_28:g.92546_92547insACCATAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1478_1479insACCATAGA
ENST00000696279.1:c.4764_4765insACCATAGA
ENST00000696280.1:n.4533_4534insACCATAGA
ENST00000696281.1:c.4462_4463insACCATAGA	ENSP00000512521.1:p.Leu1488HisfsTer?
ENST00000697921.1:n.3322_3323insACCATAGA
ENST00000697922.1:c.*4434_*4435insACCATAGA	ENSP00000513478.1:n.*4434_*4435insACCATAGA
ENST00000697923.1:n.4889_4890insACCATAGA
ENST00000223642.3:c.4444_4445insACCATAGA MANE Select	ENSP00000223642.1:p.Leu1482HisfsTer?
ENST00000223642.2:c.4444_4445insACCATAGA	ENSP00000223642.1:p.Leu1482HisfsTer?
NM_001735.2:c.4444_4445insACCATAGA , LRG_28t1:c.4444_4445insACCATAGA	NP_001726.2:p.Leu1482HisfsTer?
XM_011518980.1:c.4459_4460insACCATAGA	XP_011517282.1:p.Leu1487HisfsTer?
NM_001317163.1:c.4462_4463insACCATAGA	NP_001304092.1:p.Leu1488HisfsTer?
NM_001317163.2:c.4462_4463insACCATAGA	NP_001304092.1:p.Leu1488HisfsTer?
NM_001735.3:c.4444_4445insACCATAGA MANE Select	NP_001726.2:p.Leu1482HisfsTer?