Canonical Allele Identifier: CA810660625

Gene: C7

Linked Data

• dbSNP Id: rs1191077928
• gnomAD v4: 5-40964974-TC-T
• MyVariant Identifiers: chr5:g.40965077del (hg19) ; chr5:g.40964975del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964976del , CM000667.2:g.40964976del	GRCh38
NC_000005.9:g.40965078del , CM000667.1:g.40965078del	GRCh37
NC_000005.8:g.41000835del	NCBI36
NG_011692.1:g.60480del , LRG_30:g.60480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.674+103del
ENST00000696333.1:c.1882+103del	ENSP00000512566.1:n.1882+103del
ENST00000696441.1:c.1882+103del	ENSP00000512631.1:n.1882+103del
ENST00000706664.1:n.1996+103del
ENST00000706666.1:n.1958+103del
ENST00000706667.1:n.2772+103del
ENST00000706668.1:n.2610+103del
ENST00000313164.10:c.1882+103del MANE Select	ENSP00000322061.9:n.1882+103del
ENST00000313164.9:c.1882+103del	ENSP00000322061.9:n.1882+103del
ENST00000486779.1:n.395+103del
NM_000587.2:c.1882+103del , LRG_30t1:c.1882+103del	NP_000578.2:n.1882+103del
XM_011514122.1:c.1882+103del	XP_011512424.1:n.1882+103del
NM_000587.3:c.1882+103del	NP_000578.2:n.1882+103del
NM_000587.4:c.1882+103del MANE Select	NP_000578.2:n.1882+103del