Canonical Allele Identifier: CA2673688528

Gene: C7

Linked Data

• gnomAD v4: 5-40964890-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964895_40964896dup , CM000667.2:g.40964895_40964896dup	GRCh38
NC_000005.9:g.40964997_40964998dup , CM000667.1:g.40964997_40964998dup	GRCh37
NC_000005.8:g.41000754_41000755dup	NCBI36
NG_011692.1:g.60399_60400dup , LRG_30:g.60399_60400dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.674+22_674+23dup
ENST00000696333.1:c.1882+22_1882+23dup	ENSP00000512566.1:n.1882+22_1882+23dup
ENST00000696441.1:c.1882+22_1882+23dup	ENSP00000512631.1:n.1882+22_1882+23dup
ENST00000706664.1:n.1996+22_1996+23dup
ENST00000706666.1:n.1958+22_1958+23dup
ENST00000706667.1:n.2772+22_2772+23dup
ENST00000706668.1:n.2610+22_2610+23dup
ENST00000313164.10:c.1882+22_1882+23dup MANE Select	ENSP00000322061.9:n.1882+22_1882+23dup
ENST00000313164.9:c.1882+22_1882+23dup	ENSP00000322061.9:n.1882+22_1882+23dup
ENST00000486779.1:n.395+22_395+23dup
NM_000587.2:c.1882+22_1882+23dup , LRG_30t1:c.1882+22_1882+23dup	NP_000578.2:n.1882+22_1882+23dup
XM_011514122.1:c.1882+22_1882+23dup	XP_011512424.1:n.1882+22_1882+23dup
NM_000587.3:c.1882+22_1882+23dup	NP_000578.2:n.1882+22_1882+23dup
NM_000587.4:c.1882+22_1882+23dup MANE Select	NP_000578.2:n.1882+22_1882+23dup