Canonical Allele Identifier: CA1876870709

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120974761_120974778delinsAGAAAGTTCTTCATTTAC , CM000671.2:g.120974761_120974778delinsAGAAAGTTCTTCATTTAC	GRCh38
NC_000009.11:g.123737039_123737056delinsAGAAAGTTCTTCATTTAC , CM000671.1:g.123737039_123737056delinsAGAAAGTTCTTCATTTAC	GRCh37
NC_000009.10:g.122776860_122776877delinsAGAAAGTTCTTCATTTAC	NCBI36
NG_007364.1:g.80499_80516delinsGTAAATGAAGAACTTTCT , LRG_28:g.80499_80516delinsGTAAATGAAGAACTTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.928+1_928+18delinsGTAAATGAAGAACTTTCT
ENST00000696279.1:c.4337+1_4337+18delinsGTAAATGAAGAACTTTCT
ENST00000696280.1:n.4106+1_4106+18delinsGTAAATGAAGAACTTTCT
ENST00000696281.1:c.4035+1_4035+18delinsGTAAATGAAGAACTTTCT	ENSP00000512521.1:n.4035+1_4035+18delinsGTAAATGAAGAACTTTCT
ENST00000697921.1:n.2895+1_2895+18delinsGTAAATGAAGAACTTTCT
ENST00000697922.1:c.*4007+1_*4007+18delinsGTAAATGAAGAACTTTCT	ENSP00000513478.1:n.*4007+1_*4007+18delinsGTAAATGAAGAACTTTCT
ENST00000697923.1:n.4462+1_4462+18delinsGTAAATGAAGAACTTTCT
ENST00000223642.3:c.4017+1_4017+18delinsGTAAATGAAGAACTTTCT MANE Select	ENSP00000223642.1:n.4017+1_4017+18delinsGTAAATGAAGAACTTTCT
ENST00000223642.2:c.4017+1_4017+18delinsGTAAATGAAGAACTTTCT	ENSP00000223642.1:n.4017+1_4017+18delinsGTAAATGAAGAACTTTCT
NM_001735.2:c.4017+1_4017+18delinsGTAAATGAAGAACTTTCT , LRG_28t1:c.4017+1_4017+18delinsGTAAATGAAGAACTTTCT	NP_001726.2:n.4017+1_4017+18delinsGTAAATGAAGAACTTTCT
XM_011518980.1:c.4032+1_4032+18delinsGTAAATGAAGAACTTTCT	XP_011517282.1:n.4032+1_4032+18delinsGTAAATGAAGAACTTTCT
NM_001317163.1:c.4035+1_4035+18delinsGTAAATGAAGAACTTTCT	NP_001304092.1:n.4035+1_4035+18delinsGTAAATGAAGAACTTTCT
NM_001317163.2:c.4035+1_4035+18delinsGTAAATGAAGAACTTTCT	NP_001304092.1:n.4035+1_4035+18delinsGTAAATGAAGAACTTTCT
NM_001735.3:c.4017+1_4017+18delinsGTAAATGAAGAACTTTCT MANE Select	NP_001726.2:n.4017+1_4017+18delinsGTAAATGAAGAACTTTCT