Canonical Allele Identifier: CA10606852
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170287del , CM000679.2:g.50170287del GRCh38
NC_000017.10:g.48247648del , CM000679.1:g.48247648del GRCh37
NC_000017.9:g.45602647del NCBI36
NG_008889.1:g.9283del , LRG_203:g.9283del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.742del ENSP00000422030.2:p.Leu248CysfsTer23
ENST00000511303.6:n.310-353del
ENST00000512526.2:c.576-353del ENSP00000426606.2:n.576-353del
ENST00000682109.1:c.772del ENSP00000508041.1:p.Leu258CysfsTer23
ENST00000683226.1:n.1490del
ENST00000683294.1:c.*59+99del ENSP00000508134.1:n.*59+99del
ENST00000683544.1:n.258del
ENST00000262018.8:c.892del MANE Select ENSP00000262018.3:p.Leu298CysfsTer23
ENST00000262018.7:c.892del ENSP00000262018.3:p.Leu298CysfsTer23
ENST00000344627.10:c.585-353del ENSP00000345522.6:n.585-353del
ENST00000504073.1:c.209del
ENST00000511303.5:c.306-353del ENSP00000426104.1:n.306-353del
ENST00000512526.1:c.420-353del
ENST00000513821.5:c.748-353del ENSP00000426571.1:n.748-353del
ENST00000513942.5:n.376-353del
NM_000023.2:c.892del , LRG_203t1:c.892del NP_000014.1:p.Leu298CysfsTer23
NM_001135697.1:c.585-353del NP_001129169.1:n.585-353del
XM_011525120.1:c.892del XP_011523422.1:p.Leu298CysfsTer23
XM_011525121.1:c.742del XP_011523423.1:p.Leu248CysfsTer23
XM_011525122.1:c.748-353del XP_011523424.1:n.748-353del
XM_011525123.1:c.585-353del XP_011523425.1:n.585-353del
XM_011525124.1:c.586del XP_011523426.1:p.Leu196CysfsTer23
XR_934517.1:n.814-353del
NM_000023.3:c.892del NP_000014.1:p.Leu298CysfsTer23
NM_001135697.2:c.585-353del NP_001129169.1:n.585-353del
NR_135553.1:n.804-353del
XM_011525120.2:c.1054del XP_011523422.2:p.Leu352CysfsTer23
XM_011525121.2:c.904del XP_011523423.2:p.Leu302CysfsTer23
XM_011525122.2:c.910-353del XP_011523424.2:n.910-353del
XM_011525123.2:c.747-353del XP_011523425.2:n.747-353del
XM_011525124.2:c.586del XP_011523426.1:p.Leu196CysfsTer23
XM_024450873.1:c.586del XP_024306641.1:p.Leu196CysfsTer23
XR_002958056.1:n.1489del
NM_000023.4:c.892del MANE Select NP_000014.1:p.Leu298CysfsTer23
NM_001135697.3:c.585-353del NP_001129169.1:n.585-353del
NR_135553.2:n.784-353del