Canonical Allele Identifier: CA2673688364

Gene: C7

Linked Data

• gnomAD v4: 5-40964762-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964763del , CM000667.2:g.40964763del	GRCh38
NC_000005.9:g.40964865del , CM000667.1:g.40964865del	GRCh37
NC_000005.8:g.41000622del	NCBI36
NG_011692.1:g.60267del , LRG_30:g.60267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.564del
ENST00000696333.1:c.1772del	ENSP00000512566.1:p.Val591GlyfsTer5
ENST00000696441.1:c.1772del	ENSP00000512631.1:p.Val591GlyfsTer5
ENST00000706664.1:n.1886del
ENST00000706666.1:n.1848del
ENST00000706667.1:n.2662del
ENST00000706668.1:n.2500del
ENST00000313164.10:c.1772del MANE Select	ENSP00000322061.9:p.Val591GlyfsTer5
ENST00000313164.9:c.1772del	ENSP00000322061.9:p.Val591GlyfsTer5
ENST00000486779.1:n.285del
NM_000587.2:c.1772del , LRG_30t1:c.1772del	NP_000578.2:p.Val591GlyfsTer5
XM_011514122.1:c.1772del	XP_011512424.1:p.Val591GlyfsTer5
NM_000587.3:c.1772del	NP_000578.2:p.Val591GlyfsTer5
NM_000587.4:c.1772del MANE Select	NP_000578.2:p.Val591GlyfsTer5