Canonical Allele Identifier: CA2673688317

Gene: C7

Linked Data

• gnomAD v4: 5-40964663-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964664_40964665del , CM000667.2:g.40964664_40964665del	GRCh38
NC_000005.9:g.40964766_40964767del , CM000667.1:g.40964766_40964767del	GRCh37
NC_000005.8:g.41000523_41000524del	NCBI36
NG_011692.1:g.60168_60169del , LRG_30:g.60168_60169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.465_466del
ENST00000696333.1:c.1750-77_1750-76del	ENSP00000512566.1:n.1750-77_1750-76del
ENST00000696441.1:c.1750-77_1750-76del	ENSP00000512631.1:n.1750-77_1750-76del
ENST00000706664.1:n.1864-77_1864-76del
ENST00000706666.1:n.1826-77_1826-76del
ENST00000706667.1:n.2640-77_2640-76del
ENST00000706668.1:n.2478-77_2478-76del
ENST00000313164.10:c.1750-77_1750-76del MANE Select	ENSP00000322061.9:n.1750-77_1750-76del
ENST00000313164.9:c.1750-77_1750-76del	ENSP00000322061.9:n.1750-77_1750-76del
ENST00000486779.1:n.186_187del
NM_000587.2:c.1750-77_1750-76del , LRG_30t1:c.1750-77_1750-76del	NP_000578.2:n.1750-77_1750-76del
XM_011514122.1:c.1750-77_1750-76del	XP_011512424.1:n.1750-77_1750-76del
NM_000587.3:c.1750-77_1750-76del	NP_000578.2:n.1750-77_1750-76del
NM_000587.4:c.1750-77_1750-76del MANE Select	NP_000578.2:n.1750-77_1750-76del