Canonical Allele Identifier: CA916080841
Community Standard Title: NM_000023.4(SGCA):c.26dup (p.Leu10SerfsTer?)
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50166066dup , CM000679.2:g.50166066dup GRCh38
NC_000017.10:g.48243427dup , CM000679.1:g.48243427dup GRCh37
NC_000017.9:g.45598426dup NCBI36
NG_008889.1:g.5062dup , LRG_203:g.5062dup

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.26dup MANE Select NP_000014.1:p.Leu10SerfsTer?
ENST00000262018.8:c.26dup MANE Select ENSP00000262018.3:p.Leu10SerfsTer?
NM_000023.2:c.26dup , LRG_203t1:c.26dup NP_000014.1:p.Leu10SerfsTer?
NM_000023.3:c.26dup NP_000014.1:p.Leu10SerfsTer?
NM_001135697.1:c.26dup NP_001129169.1:p.Leu10SerfsTer?
NM_001135697.2:c.26dup NP_001129169.1:p.Leu10SerfsTer?
NM_001135697.3:c.26dup NP_001129169.1:p.Leu10SerfsTer?
NR_135553.1:n.82dup
NR_135553.2:n.62dup
ENST00000262018.7:c.26dup ENSP00000262018.3:p.Leu10SerfsTer?
ENST00000344627.10:c.26dup ENSP00000345522.6:p.Leu10SerfsTer?
ENST00000502555.5:c.26dup ENSP00000422817.1:p.Leu10SerfsTer?
ENST00000504073.2:c.26dup ENSP00000422030.2:p.Leu10SerfsTer?
ENST00000511303.5:c.22dup ENSP00000426104.1:p.Leu8ProfsTer14
ENST00000511303.6:n.26dup
ENST00000512526.2:c.26dup ENSP00000426606.2:p.Leu10SerfsTer?
ENST00000513821.5:c.26dup ENSP00000426571.1:p.Leu10SerfsTer?
ENST00000513942.5:n.103+1750dup
ENST00000514934.1:c.26dup ENSP00000423168.1:p.Leu10SerfsTer?
ENST00000682109.1:c.26dup ENSP00000508041.1:p.Leu10SerfsTer?
ENST00000683294.1:c.26dup ENSP00000508134.1:p.Leu10SerfsTer?
XM_011525120.1:c.26dup XP_011523422.1:p.Leu10SerfsTer?
XM_011525120.2:c.188dup XP_011523422.2:p.Leu64SerfsTer?
XM_011525121.1:c.26dup XP_011523423.1:p.Leu10SerfsTer?
XM_011525121.2:c.188dup XP_011523423.2:p.Leu64SerfsTer?
XM_011525122.1:c.26dup XP_011523424.1:p.Leu10SerfsTer?
XM_011525122.2:c.188dup XP_011523424.2:p.Leu64SerfsTer?
XM_011525123.1:c.26dup XP_011523425.1:p.Leu10SerfsTer?
XM_011525123.2:c.188dup XP_011523425.2:p.Leu64SerfsTer?
XM_011525124.1:c.-126dup XP_011523426.1:n.-126dup
XM_011525124.2:c.-126dup XP_011523426.1:n.-126dup
XM_024450873.1:c.-126dup XP_024306641.1:n.-126dup
XR_001752932.1:n.658dup
XR_002958056.1:n.544dup
XR_934517.1:n.92dup
XR_934832.1:n.39dup
XR_934832.2:n.658dup
XR_934833.1:n.39dup
XR_934833.2:n.658dup
XR_934834.1:n.39dup
XR_934835.1:n.39dup
XR_934835.2:n.658dup