Canonical Allele Identifier: CA16618207
Gene: C7 HGNC NCBI

Linked Data

ClinVar Variation Id: 420832
ClinVar RCV Id: RCV000479625
dbSNP Id: rs1064794728
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40959445_40959447delinsTT , CM000667.2:g.40959445_40959447delinsTT GRCh38
NC_000005.9:g.40959547_40959549delinsTT , CM000667.1:g.40959547_40959549delinsTT GRCh37
NC_000005.8:g.40995304_40995306delinsTT NCBI36
NG_011692.1:g.54949_54951delinsTT , LRG_30:g.54949_54951delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000696333.1:c.1490-4_1490-2delinsTT ENSP00000512566.1:n.1490-4_1490-2delinsTT...
ENST00000696441.1:c.1490-4_1490-2delinsTT ENSP00000512631.1:n.1490-4_1490-2delinsTT...
ENST00000706664.1:n.1604-4_1604-2delinsTT
ENST00000706666.1:n.1566-4_1566-2delinsTT
ENST00000706667.1:n.2380-4_2380-2delinsTT
ENST00000706668.1:n.2218-4_2218-2delinsTT
ENST00000313164.10:c.1490-4_1490-2delinsTT MANE Select ENSP00000322061.9:n.1490-4_1490-2delinsTT...
ENST00000313164.9:c.1490-4_1490-2delinsTT ENSP00000322061.9:n.1490-4_1490-2delinsTT...
NM_000587.2:c.1490-4_1490-2delinsTT , LRG_30t1:c.1490-4_1490-2delinsTT NP_000578.2:n.1490-4_1490-2delinsTT
XM_011514122.1:c.1490-4_1490-2delinsTT XP_011512424.1:n.1490-4_1490-2delinsTT
NM_000587.3:c.1490-4_1490-2delinsTT NP_000578.2:n.1490-4_1490-2delinsTT
NM_000587.4:c.1490-4_1490-2delinsTT MANE Select NP_000578.2:n.1490-4_1490-2delinsTT
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