Canonical Allele Identifier: CA1876874456

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120980589_120980600delinsCTTTTTTTTTCT , CM000671.2:g.120980589_120980600delinsCTTTTTTTTTCT	GRCh38
NC_000009.11:g.123742867_123742878delinsCTTTTTTTTTCT , CM000671.1:g.123742867_123742878delinsCTTTTTTTTTCT	GRCh37
NC_000009.10:g.122782688_122782699delinsCTTTTTTTTTCT	NCBI36
NG_007364.1:g.74677_74688delinsAGAAAAAAAAAG , LRG_28:g.74677_74688delinsAGAAAAAAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.398-346_398-335delinsAGAAAAAAAAAG
ENST00000696279.1:c.3807-346_3807-335delinsAGAAAAAAAAAG
ENST00000696280.1:n.3576-346_3576-335delinsAGAAAAAAAAAG
ENST00000696281.1:c.3505-346_3505-335delinsAGAAAAAAAAAG	ENSP00000512521.1:n.3505-346_3505-335delinsAGAAAAAAAAAG
ENST00000697921.1:n.2365-346_2365-335delinsAGAAAAAAAAAG
ENST00000697922.1:c.*3477-346_*3477-335delinsAGAAAAAAAAAG	ENSP00000513478.1:n.*3477-346_*3477-335delinsAGAAAAAAAAAG
ENST00000697923.1:n.3932-346_3932-335delinsAGAAAAAAAAAG
ENST00000223642.3:c.3487-346_3487-335delinsAGAAAAAAAAAG MANE Select	ENSP00000223642.1:n.3487-346_3487-335delinsAGAAAAAAAAAG
ENST00000223642.2:c.3487-346_3487-335delinsAGAAAAAAAAAG	ENSP00000223642.1:n.3487-346_3487-335delinsAGAAAAAAAAAG
ENST00000489802.1:n.50-346_50-335delinsAGAAAAAAAAAG
NM_001735.2:c.3487-346_3487-335delinsAGAAAAAAAAAG , LRG_28t1:c.3487-346_3487-335delinsAGAAAAAAAAAG	NP_001726.2:n.3487-346_3487-335delinsAGAAAAAAAAAG
XM_011518980.1:c.3502-346_3502-335delinsAGAAAAAAAAAG	XP_011517282.1:n.3502-346_3502-335delinsAGAAAAAAAAAG
NM_001317163.1:c.3505-346_3505-335delinsAGAAAAAAAAAG	NP_001304092.1:n.3505-346_3505-335delinsAGAAAAAAAAAG
NM_001317163.2:c.3505-346_3505-335delinsAGAAAAAAAAAG	NP_001304092.1:n.3505-346_3505-335delinsAGAAAAAAAAAG
NM_001735.3:c.3487-346_3487-335delinsAGAAAAAAAAAG MANE Select	NP_001726.2:n.3487-346_3487-335delinsAGAAAAAAAAAG