Canonical Allele Identifier: CA127057

Gene: C5

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120953758_120953759delinsC , CM000671.2:g.120953758_120953759delinsC	GRCh38
NC_000009.11:g.123716036_123716037delinsC , CM000671.1:g.123716036_123716037delinsC	GRCh37
NC_000009.10:g.122755857_122755858delinsC	NCBI36
NG_007364.1:g.101518_101519delinsG , LRG_28:g.101518_101519delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.5322_5323delinsG
ENST00000696279.1:c.5192_5193delinsG
ENST00000696280.1:n.4961_4962delinsG
ENST00000696281.1:c.4890_4891delinsG	ENSP00000512521.1:p.Leu1631SerfsTer3
ENST00000697921.1:n.3750_3751delinsG
ENST00000697922.1:c.*4862_*4863delinsG	ENSP00000513478.1:n.*4862_*4863delinsG
ENST00000697923.1:n.8733_8734delinsG
ENST00000223642.3:c.4872_4873delinsG MANE Select	ENSP00000223642.1:p.Leu1625SerfsTer3
ENST00000223642.2:c.4872_4873delinsG	ENSP00000223642.1:p.Leu1625SerfsTer3
NM_001735.2:c.4872_4873delinsG , LRG_28t1:c.4872_4873delinsG	NP_001726.2:p.Leu1625SerfsTer3
XM_011518980.1:c.4887_4888delinsG	XP_011517282.1:p.Leu1630SerfsTer3
NM_001317163.1:c.4890_4891delinsG	NP_001304092.1:p.Leu1631SerfsTer3
NM_001317163.2:c.4890_4891delinsG	NP_001304092.1:p.Leu1631SerfsTer3
NM_001735.3:c.4872_4873delinsG MANE Select	NP_001726.2:p.Leu1625SerfsTer3