Canonical Allele Identifier: CA2673685691

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40934446_40934449dup , CM000667.2:g.40934446_40934449dup	GRCh38
NC_000005.9:g.40934548_40934551dup , CM000667.1:g.40934548_40934551dup	GRCh37
NC_000005.8:g.40970305_40970308dup	NCBI36
NG_011692.1:g.29950_29953dup , LRG_30:g.29950_29953dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000587.4:c.260_263dup MANE Select	NP_000578.2:p.Phe89AlafsTer21
ENST00000313164.10:c.260_263dup MANE Select	ENSP00000322061.9:p.Phe89AlafsTer21
NM_000587.2:c.260_263dup , LRG_30t1:c.260_263dup	NP_000578.2:p.Phe89AlafsTer21
NM_000587.3:c.260_263dup	NP_000578.2:p.Phe89AlafsTer21
ENST00000313164.9:c.260_263dup	ENSP00000322061.9:p.Phe89AlafsTer21
ENST00000489457.2:c.260_263dup	ENSP00000512585.1:p.Phe89AlafsTer21
ENST00000508185.5:n.124_127dup
ENST00000696333.1:c.260_263dup	ENSP00000512566.1:p.Phe89AlafsTer21
ENST00000696441.1:c.260_263dup	ENSP00000512631.1:p.Phe89AlafsTer21
ENST00000706664.1:n.374_377dup
ENST00000706666.1:n.336_339dup
ENST00000706667.1:n.1008_1011dup
ENST00000706668.1:n.988_991dup
XM_011514122.1:c.260_263dup	XP_011512424.1:p.Phe89AlafsTer21