Canonical Allele Identifier: CA2508975029

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962242_120962243insGTCCCTCTTCCCCTTGAG , CM000671.2:g.120962242_120962243insGTCCCTCTTCCCCTTGAG	GRCh38
NC_000009.11:g.123724520_123724521insGTCCCTCTTCCCCTTGAG , CM000671.1:g.123724520_123724521insGTCCCTCTTCCCCTTGAG	GRCh37
NC_000009.10:g.122764341_122764342insGTCCCTCTTCCCCTTGAG	NCBI36
NG_007364.1:g.93034_93035insCTCAAGGGGAAGAGGGAC , LRG_28:g.93034_93035insCTCAAGGGGAAGAGGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1538+428_1538+429insCTCAAGGGGAAGAGGGAC
ENST00000696279.1:c.4824+428_4824+429insCTCAAGGGGAAGAGGGAC
ENST00000696280.1:n.4593+428_4593+429insCTCAAGGGGAAGAGGGAC
ENST00000696281.1:c.4522+428_4522+429insCTCAAGGGGAAGAGGGAC	ENSP00000512521.1:n.4522+428_4522+429insCTCAAGGGGAAGAGGGAC
ENST00000697921.1:n.3382+428_3382+429insCTCAAGGGGAAGAGGGAC
ENST00000697922.1:c.*4494+428_*4494+429insCTCAAGGGGAAGAGGGAC	ENSP00000513478.1:n.*4494+428_*4494+429insCTCAAGGGGAAGAGGGAC
ENST00000697923.1:n.4949+428_4949+429insCTCAAGGGGAAGAGGGAC
ENST00000223642.3:c.4504+428_4504+429insCTCAAGGGGAAGAGGGAC MANE Select	ENSP00000223642.1:n.4504+428_4504+429insCTCAAGGGGAAGAGGGAC
ENST00000223642.2:c.4504+428_4504+429insCTCAAGGGGAAGAGGGAC	ENSP00000223642.1:n.4504+428_4504+429insCTCAAGGGGAAGAGGGAC
ENST00000480188.1:n.37+428_37+429insCTCAAGGGGAAGAGGGAC
NM_001735.2:c.4504+428_4504+429insCTCAAGGGGAAGAGGGAC , LRG_28t1:c.4504+428_4504+429insCTCAAGGGGAAGAGGGAC	NP_001726.2:n.4504+428_4504+429insCTCAAGGGGAAGAGGGAC
XM_011518980.1:c.4519+428_4519+429insCTCAAGGGGAAGAGGGAC	XP_011517282.1:n.4519+428_4519+429insCTCAAGGGGAAGAGGGAC
NM_001317163.1:c.4522+428_4522+429insCTCAAGGGGAAGAGGGAC	NP_001304092.1:n.4522+428_4522+429insCTCAAGGGGAAGAGGGAC
NM_001317163.2:c.4522+428_4522+429insCTCAAGGGGAAGAGGGAC	NP_001304092.1:n.4522+428_4522+429insCTCAAGGGGAAGAGGGAC
NM_001735.3:c.4504+428_4504+429insCTCAAGGGGAAGAGGGAC MANE Select	NP_001726.2:n.4504+428_4504+429insCTCAAGGGGAAGAGGGAC