Canonical Allele Identifier: CA2691480372

Gene: C5

Linked Data

• gnomAD v4: 9-120962522-AGTTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962524_120962528del , CM000671.2:g.120962524_120962528del	GRCh38
NC_000009.11:g.123724802_123724806del , CM000671.1:g.123724802_123724806del	GRCh37
NC_000009.10:g.122764623_122764627del	NCBI36
NG_007364.1:g.92750_92754del , LRG_28:g.92750_92754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1538+144_1538+148del
ENST00000696279.1:c.4824+144_4824+148del
ENST00000696280.1:n.4593+144_4593+148del
ENST00000696281.1:c.4522+144_4522+148del	ENSP00000512521.1:n.4522+144_4522+148del
ENST00000697921.1:n.3382+144_3382+148del
ENST00000697922.1:c.*4494+144_*4494+148del	ENSP00000513478.1:n.*4494+144_*4494+148del
ENST00000697923.1:n.4949+144_4949+148del
ENST00000223642.3:c.4504+144_4504+148del MANE Select	ENSP00000223642.1:n.4504+144_4504+148del
ENST00000223642.2:c.4504+144_4504+148del	ENSP00000223642.1:n.4504+144_4504+148del
ENST00000480188.1:n.37+144_37+148del
NM_001735.2:c.4504+144_4504+148del , LRG_28t1:c.4504+144_4504+148del	NP_001726.2:n.4504+144_4504+148del
XM_011518980.1:c.4519+144_4519+148del	XP_011517282.1:n.4519+144_4519+148del
NM_001317163.1:c.4522+144_4522+148del	NP_001304092.1:n.4522+144_4522+148del
NM_001317163.2:c.4522+144_4522+148del	NP_001304092.1:n.4522+144_4522+148del
NM_001735.3:c.4504+144_4504+148del MANE Select	NP_001726.2:n.4504+144_4504+148del