Canonical Allele Identifier: CA1541437911

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964915_40964920delinsACGTGG , CM000667.2:g.40964915_40964920delinsACGTGG	GRCh38
NC_000005.9:g.40965017_40965022delinsACGTGG , CM000667.1:g.40965017_40965022delinsACGTGG	GRCh37
NC_000005.8:g.41000774_41000779delinsACGTGG	NCBI36
NG_011692.1:g.60419_60424delinsACGTGG , LRG_30:g.60419_60424delinsACGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.674+42_674+47delinsACGTGG
ENST00000696333.1:c.1882+42_1882+47delinsACGTGG	ENSP00000512566.1:n.1882+42_1882+47delinsACGTGG
ENST00000696441.1:c.1882+42_1882+47delinsACGTGG	ENSP00000512631.1:n.1882+42_1882+47delinsACGTGG
ENST00000706664.1:n.1996+42_1996+47delinsACGTGG
ENST00000706666.1:n.1958+42_1958+47delinsACGTGG
ENST00000706667.1:n.2772+42_2772+47delinsACGTGG
ENST00000706668.1:n.2610+42_2610+47delinsACGTGG
ENST00000313164.10:c.1882+42_1882+47delinsACGTGG MANE Select	ENSP00000322061.9:n.1882+42_1882+47delinsACGTGG
ENST00000313164.9:c.1882+42_1882+47delinsACGTGG	ENSP00000322061.9:n.1882+42_1882+47delinsACGTGG
ENST00000486779.1:n.395+42_395+47delinsACGTGG
NM_000587.2:c.1882+42_1882+47delinsACGTGG , LRG_30t1:c.1882+42_1882+47delinsACGTGG	NP_000578.2:n.1882+42_1882+47delinsACGTGG
XM_011514122.1:c.1882+42_1882+47delinsACGTGG	XP_011512424.1:n.1882+42_1882+47delinsACGTGG
NM_000587.3:c.1882+42_1882+47delinsACGTGG	NP_000578.2:n.1882+42_1882+47delinsACGTGG
NM_000587.4:c.1882+42_1882+47delinsACGTGG MANE Select	NP_000578.2:n.1882+42_1882+47delinsACGTGG