Canonical Allele Identifier: CA2673688582

Gene: C7

Linked Data

• gnomAD v4: 5-40964974-T-TACAGGAAAGGAAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964974_40964975insACAGGAAAGGAAGG , CM000667.2:g.40964974_40964975insACAGGAAAGGAAGG	GRCh38
NC_000005.9:g.40965076_40965077insACAGGAAAGGAAGG , CM000667.1:g.40965076_40965077insACAGGAAAGGAAGG	GRCh37
NC_000005.8:g.41000833_41000834insACAGGAAAGGAAGG	NCBI36
NG_011692.1:g.60478_60479insACAGGAAAGGAAGG , LRG_30:g.60478_60479insACAGGAAAGGAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.674+101_674+102insACAGGAAAGGAAGG
ENST00000696333.1:c.1882+101_1882+102insACAGGAAAGGAAGG	ENSP00000512566.1:n.1882+101_1882+102insACAGGAAAGGAAGG
ENST00000696441.1:c.1882+101_1882+102insACAGGAAAGGAAGG	ENSP00000512631.1:n.1882+101_1882+102insACAGGAAAGGAAGG
ENST00000706664.1:n.1996+101_1996+102insACAGGAAAGGAAGG
ENST00000706666.1:n.1958+101_1958+102insACAGGAAAGGAAGG
ENST00000706667.1:n.2772+101_2772+102insACAGGAAAGGAAGG
ENST00000706668.1:n.2610+101_2610+102insACAGGAAAGGAAGG
ENST00000313164.10:c.1882+101_1882+102insACAGGAAAGGAAGG MANE Select	ENSP00000322061.9:n.1882+101_1882+102insACAGGAAAGGAAGG
ENST00000313164.9:c.1882+101_1882+102insACAGGAAAGGAAGG	ENSP00000322061.9:n.1882+101_1882+102insACAGGAAAGGAAGG
ENST00000486779.1:n.395+101_395+102insACAGGAAAGGAAGG
NM_000587.2:c.1882+101_1882+102insACAGGAAAGGAAGG , LRG_30t1:c.1882+101_1882+102insACAGGAAAGGAAGG	NP_000578.2:n.1882+101_1882+102insACAGGAAAGGAAGG
XM_011514122.1:c.1882+101_1882+102insACAGGAAAGGAAGG	XP_011512424.1:n.1882+101_1882+102insACAGGAAAGGAAGG
NM_000587.3:c.1882+101_1882+102insACAGGAAAGGAAGG	NP_000578.2:n.1882+101_1882+102insACAGGAAAGGAAGG
NM_000587.4:c.1882+101_1882+102insACAGGAAAGGAAGG MANE Select	NP_000578.2:n.1882+101_1882+102insACAGGAAAGGAAGG