Canonical Allele Identifier: CA1876874455

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120980589_120980591delinsCTT , CM000671.2:g.120980589_120980591delinsCTT	GRCh38
NC_000009.11:g.123742867_123742869delinsCTT , CM000671.1:g.123742867_123742869delinsCTT	GRCh37
NC_000009.10:g.122782688_122782690delinsCTT	NCBI36
NG_007364.1:g.74686_74688delinsAAG , LRG_28:g.74686_74688delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.398-337_398-335delinsAAG
ENST00000696279.1:c.3807-337_3807-335delinsAAG
ENST00000696280.1:n.3576-337_3576-335delinsAAG
ENST00000696281.1:c.3505-337_3505-335delinsAAG	ENSP00000512521.1:n.3505-337_3505-335delinsAAG
ENST00000697921.1:n.2365-337_2365-335delinsAAG
ENST00000697922.1:c.*3477-337_*3477-335delinsAAG	ENSP00000513478.1:n.*3477-337_*3477-335delinsAAG
ENST00000697923.1:n.3932-337_3932-335delinsAAG
ENST00000223642.3:c.3487-337_3487-335delinsAAG MANE Select	ENSP00000223642.1:n.3487-337_3487-335delinsAAG
ENST00000223642.2:c.3487-337_3487-335delinsAAG	ENSP00000223642.1:n.3487-337_3487-335delinsAAG
ENST00000489802.1:n.50-337_50-335delinsAAG
NM_001735.2:c.3487-337_3487-335delinsAAG , LRG_28t1:c.3487-337_3487-335delinsAAG	NP_001726.2:n.3487-337_3487-335delinsAAG
XM_011518980.1:c.3502-337_3502-335delinsAAG	XP_011517282.1:n.3502-337_3502-335delinsAAG
NM_001317163.1:c.3505-337_3505-335delinsAAG	NP_001304092.1:n.3505-337_3505-335delinsAAG
NM_001317163.2:c.3505-337_3505-335delinsAAG	NP_001304092.1:n.3505-337_3505-335delinsAAG
NM_001735.3:c.3487-337_3487-335delinsAAG MANE Select	NP_001726.2:n.3487-337_3487-335delinsAAG