Canonical Allele Identifier: CA2573139673

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40931094del , CM000667.2:g.40931094del	GRCh38
NC_000005.9:g.40931196del , CM000667.1:g.40931196del	GRCh37
NC_000005.8:g.40966953del	NCBI36
NG_011692.1:g.26598del , LRG_30:g.26598del

Transcript Alleles

HGVS	Amino-acid Change
NM_000587.4:c.93del MANE Select	NP_000578.2:p.Phe32SerfsTer?
ENST00000313164.10:c.93del MANE Select	ENSP00000322061.9:p.Phe32SerfsTer?
NM_000587.2:c.93del , LRG_30t1:c.93del	NP_000578.2:p.Phe32SerfsTer?
NM_000587.3:c.93del	NP_000578.2:p.Phe32SerfsTer?
ENST00000313164.9:c.93del	ENSP00000322061.9:p.Phe32SerfsTer?
ENST00000489457.2:c.93del	ENSP00000512585.1:p.Phe32SerfsTer?
ENST00000696333.1:c.93del	ENSP00000512566.1:p.Phe32SerfsTer?
ENST00000696334.1:n.206del
ENST00000696441.1:c.93del	ENSP00000512631.1:p.Phe32SerfsTer?
ENST00000706664.1:n.207del
ENST00000706666.1:n.169del
ENST00000706667.1:n.841del
ENST00000706668.1:n.821del
XM_011514122.1:c.93del	XP_011512424.1:p.Phe32SerfsTer?