Canonical Allele Identifier: CA3249927

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40958086del , CM000667.2:g.40958086del	GRCh38
NC_000005.9:g.40958188del , CM000667.1:g.40958188del	GRCh37
NC_000005.8:g.40993945del	NCBI36
NG_011692.1:g.53590del , LRG_30:g.53590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696333.1:c.1314del	ENSP00000512566.1:p.Lys438AsnfsTer4
ENST00000696441.1:c.1314del	ENSP00000512631.1:p.Lys438AsnfsTer4
ENST00000706664.1:n.1428del
ENST00000706666.1:n.1390del
ENST00000706667.1:n.2204del
ENST00000706668.1:n.2042del
ENST00000313164.10:c.1314del MANE Select	ENSP00000322061.9:p.Lys438AsnfsTer4
ENST00000313164.9:c.1314del	ENSP00000322061.9:p.Lys438AsnfsTer4
NM_000587.2:c.1314del , LRG_30t1:c.1314del	NP_000578.2:p.Lys438AsnfsTer4
XM_011514122.1:c.1314del	XP_011512424.1:p.Lys438AsnfsTer4
NM_000587.3:c.1314del	NP_000578.2:p.Lys438AsnfsTer4
NM_000587.4:c.1314del MANE Select	NP_000578.2:p.Lys438AsnfsTer4