Canonical Allele Identifier: CA10606166
Gene: SGCA HGNC NCBI

Linked Data

ClinVar Variation Id: 288637
ClinVar RCV Id: RCV000390542
dbSNP Id: rs886043962

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170165del , CM000679.2:g.50170165del GRCh38
NC_000017.10:g.48247526del , CM000679.1:g.48247526del GRCh37
NC_000017.9:g.45602525del NCBI36
NG_008889.1:g.9161del , LRG_203:g.9161del

Transcript Alleles

HGVS Amino-acid change
ENST00000504073.2:c.620del ENSP00000422030.2:p.Pro207LeufsTer?
ENST00000511303.6:n.310-475del
ENST00000512526.2:c.576-475del ENSP00000426606.2:n.576-475del
ENST00000682109.1:c.650del ENSP00000508041.1:p.Pro217LeufsTer?
ENST00000683226.1:n.1368del
ENST00000683294.1:c.*36del ENSP00000508134.1:n.*36del
ENST00000683544.1:n.136del
ENST00000262018.8:c.770del MANE Select ENSP00000262018.3:p.Pro257LeufsTer?
ENST00000262018.7:c.770del ENSP00000262018.3:p.Pro257LeufsTer?
ENST00000344627.10:c.585-475del ENSP00000345522.6:n.585-475del
ENST00000504073.1:c.87del
ENST00000511303.5:c.306-475del ENSP00000426104.1:n.306-475del
ENST00000512526.1:c.420-475del
ENST00000513821.5:c.748-475del ENSP00000426571.1:n.748-475del
ENST00000513942.5:n.376-475del
NM_000023.2:c.770del , LRG_203t1:c.770del NP_000014.1:p.Pro257LeufsTer?
NM_001135697.1:c.585-475del NP_001129169.1:n.585-475del
XM_011525120.1:c.770del XP_011523422.1:p.Pro257LeufsTer?
XM_011525121.1:c.620del XP_011523423.1:p.Pro207LeufsTer?
XM_011525122.1:c.748-475del XP_011523424.1:n.748-475del
XM_011525123.1:c.585-475del XP_011523425.1:n.585-475del
XM_011525124.1:c.464del XP_011523426.1:p.Pro155LeufsTer?
XR_934517.1:n.814-475del
NM_000023.3:c.770del NP_000014.1:p.Pro257LeufsTer?
NM_001135697.2:c.585-475del NP_001129169.1:n.585-475del
NR_135553.1:n.804-475del
XM_011525120.2:c.932del XP_011523422.2:p.Pro311LeufsTer?
XM_011525121.2:c.782del XP_011523423.2:p.Pro261LeufsTer?
XM_011525122.2:c.910-475del XP_011523424.2:n.910-475del
XM_011525123.2:c.747-475del XP_011523425.2:n.747-475del
XM_011525124.2:c.464del XP_011523426.1:p.Pro155LeufsTer?
XM_024450873.1:c.464del XP_024306641.1:p.Pro155LeufsTer?
XR_002958056.1:n.1367del
NM_000023.4:c.770del MANE Select NP_000014.1:p.Pro257LeufsTer?
NM_001135697.3:c.585-475del NP_001129169.1:n.585-475del
NR_135553.2:n.784-475del