Canonical Allele Identifier: CA559076956
Gene: C7 HGNC NCBI

Linked Data

dbSNP Id: rs1236304454

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40964916_40964920del , CM000667.2:g.40964916_40964920del GRCh38
NC_000005.9:g.40965018_40965022del , CM000667.1:g.40965018_40965022del GRCh37
NC_000005.8:g.41000775_41000779del NCBI36
NG_011692.1:g.60420_60424del , LRG_30:g.60420_60424del

Transcript Alleles

HGVS Amino-acid Change
ENST00000486779.2:n.674+43_674+47del
ENST00000696333.1:c.1882+43_1882+47del ENSP00000512566.1:n.1882+43_1882+47del
ENST00000696441.1:c.1882+43_1882+47del ENSP00000512631.1:n.1882+43_1882+47del
ENST00000706664.1:n.1996+43_1996+47del
ENST00000706666.1:n.1958+43_1958+47del
ENST00000706667.1:n.2772+43_2772+47del
ENST00000706668.1:n.2610+43_2610+47del
ENST00000313164.10:c.1882+43_1882+47del MANE Select ENSP00000322061.9:n.1882+43_1882+47del
ENST00000313164.9:c.1882+43_1882+47del ENSP00000322061.9:n.1882+43_1882+47del
ENST00000486779.1:n.395+43_395+47del
NM_000587.2:c.1882+43_1882+47del , LRG_30t1:c.1882+43_1882+47del NP_000578.2:n.1882+43_1882+47del
XM_011514122.1:c.1882+43_1882+47del XP_011512424.1:n.1882+43_1882+47del
NM_000587.3:c.1882+43_1882+47del NP_000578.2:n.1882+43_1882+47del
NM_000587.4:c.1882+43_1882+47del MANE Select NP_000578.2:n.1882+43_1882+47del