Canonical Allele Identifier: CA2673688579

Gene: C7

Linked Data

• gnomAD v4: 5-40964964-G-GGGCCATA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964964_40964965insGGCCATA , CM000667.2:g.40964964_40964965insGGCCATA	GRCh38
NC_000005.9:g.40965066_40965067insGGCCATA , CM000667.1:g.40965066_40965067insGGCCATA	GRCh37
NC_000005.8:g.41000823_41000824insGGCCATA	NCBI36
NG_011692.1:g.60468_60469insGGCCATA , LRG_30:g.60468_60469insGGCCATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.674+91_674+92insGGCCATA
ENST00000696333.1:c.1882+91_1882+92insGGCCATA	ENSP00000512566.1:n.1882+91_1882+92insGGCCATA
ENST00000696441.1:c.1882+91_1882+92insGGCCATA	ENSP00000512631.1:n.1882+91_1882+92insGGCCATA
ENST00000706664.1:n.1996+91_1996+92insGGCCATA
ENST00000706666.1:n.1958+91_1958+92insGGCCATA
ENST00000706667.1:n.2772+91_2772+92insGGCCATA
ENST00000706668.1:n.2610+91_2610+92insGGCCATA
ENST00000313164.10:c.1882+91_1882+92insGGCCATA MANE Select	ENSP00000322061.9:n.1882+91_1882+92insGGCCATA
ENST00000313164.9:c.1882+91_1882+92insGGCCATA	ENSP00000322061.9:n.1882+91_1882+92insGGCCATA
ENST00000486779.1:n.395+91_395+92insGGCCATA
NM_000587.2:c.1882+91_1882+92insGGCCATA , LRG_30t1:c.1882+91_1882+92insGGCCATA	NP_000578.2:n.1882+91_1882+92insGGCCATA
XM_011514122.1:c.1882+91_1882+92insGGCCATA	XP_011512424.1:n.1882+91_1882+92insGGCCATA
NM_000587.3:c.1882+91_1882+92insGGCCATA	NP_000578.2:n.1882+91_1882+92insGGCCATA
NM_000587.4:c.1882+91_1882+92insGGCCATA MANE Select	NP_000578.2:n.1882+91_1882+92insGGCCATA