Canonical Allele Identifier: CA2553119329

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120954336_120954337insGGGGGTGGGG , CM000671.2:g.120954336_120954337insGGGGGTGGGG	GRCh38
NC_000009.11:g.123716614_123716615insGGGGGTGGGG , CM000671.1:g.123716614_123716615insGGGGGTGGGG	GRCh37
NC_000009.10:g.122756435_122756436insGGGGGTGGGG	NCBI36
NG_007364.1:g.100940_100941insCCCCACCCCC , LRG_28:g.100940_100941insCCCCACCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.4744_4745insCCCCACCCCC
ENST00000696279.1:c.5083-469_5083-468insCCCCACCCCC
ENST00000696280.1:n.4852-469_4852-468insCCCCACCCCC
ENST00000696281.1:c.4781-469_4781-468insCCCCACCCCC	ENSP00000512521.1:n.4781-469_4781-468insCCCCACCCCC
ENST00000697921.1:n.3641-469_3641-468insCCCCACCCCC
ENST00000697922.1:c.*4753-469_*4753-468insCCCCACCCCC	ENSP00000513478.1:n.*4753-469_*4753-468insCCCCACCCCC
ENST00000697923.1:n.8155_8156insCCCCACCCCC
ENST00000223642.3:c.4763-469_4763-468insCCCCACCCCC MANE Select	ENSP00000223642.1:n.4763-469_4763-468insCCCCACCCCC
ENST00000223642.2:c.4763-469_4763-468insCCCCACCCCC	ENSP00000223642.1:n.4763-469_4763-468insCCCCACCCCC
NM_001735.2:c.4763-469_4763-468insCCCCACCCCC , LRG_28t1:c.4763-469_4763-468insCCCCACCCCC	NP_001726.2:n.4763-469_4763-468insCCCCACCCCC
XM_011518980.1:c.4778-469_4778-468insCCCCACCCCC	XP_011517282.1:n.4778-469_4778-468insCCCCACCCCC
NM_001317163.1:c.4781-469_4781-468insCCCCACCCCC	NP_001304092.1:n.4781-469_4781-468insCCCCACCCCC
NM_001317163.2:c.4781-469_4781-468insCCCCACCCCC	NP_001304092.1:n.4781-469_4781-468insCCCCACCCCC
NM_001735.3:c.4763-469_4763-468insCCCCACCCCC MANE Select	NP_001726.2:n.4763-469_4763-468insCCCCACCCCC