Canonical Allele Identifier: CA2673688558

Gene: C7

Linked Data

• gnomAD v4: 5-40964925-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964927del , CM000667.2:g.40964927del	GRCh38
NC_000005.9:g.40965029del , CM000667.1:g.40965029del	GRCh37
NC_000005.8:g.41000786del	NCBI36
NG_011692.1:g.60431del , LRG_30:g.60431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.674+54del
ENST00000696333.1:c.1882+54del	ENSP00000512566.1:n.1882+54del
ENST00000696441.1:c.1882+54del	ENSP00000512631.1:n.1882+54del
ENST00000706664.1:n.1996+54del
ENST00000706666.1:n.1958+54del
ENST00000706667.1:n.2772+54del
ENST00000706668.1:n.2610+54del
ENST00000313164.10:c.1882+54del MANE Select	ENSP00000322061.9:n.1882+54del
ENST00000313164.9:c.1882+54del	ENSP00000322061.9:n.1882+54del
ENST00000486779.1:n.395+54del
NM_000587.2:c.1882+54del , LRG_30t1:c.1882+54del	NP_000578.2:n.1882+54del
XM_011514122.1:c.1882+54del	XP_011512424.1:n.1882+54del
NM_000587.3:c.1882+54del	NP_000578.2:n.1882+54del
NM_000587.4:c.1882+54del MANE Select	NP_000578.2:n.1882+54del