Canonical Allele Identifier: CA2580073276

Gene: C9

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.39285214del , CM000667.2:g.39285214del	GRCh38
NC_000005.9:g.39285316del , CM000667.1:g.39285316del	GRCh37
NC_000005.8:g.39321073del	NCBI36
NG_009894.1:g.84343del , LRG_32:g.84343del

Transcript Alleles

HGVS	Amino-acid Change
NM_001737.5:c.1668del MANE Select	NP_001728.1:p.Asn557MetfsTer?
ENST00000263408.5:c.1668del MANE Select	ENSP00000263408.4:p.Asn557MetfsTer?
NM_001737.3:c.1668del , LRG_32t1:c.1668del	NP_001728.1:p.Asn557MetfsTer?
NM_001737.4:c.1668del	NP_001728.1:p.Asn557MetfsTer?
ENST00000263408.4:c.1668del	ENSP00000263408.4:p.Asn557MetfsTer?
ENST00000509186.6:c.1596del	ENSP00000512235.1:p.Asn533MetfsTer?
ENST00000695880.1:c.1539del	ENSP00000512236.1:p.Asn514MetfsTer?
ENST00000695881.1:c.*330del	ENSP00000512237.1:n.*330del
ENST00000695882.1:n.799del