Canonical Allele Identifier: CA500828185

Gene: SGCA

Linked Data

• ClinVar Variation Id: 1073628
• ClinVar RCV Id: RCV001386680
• dbSNP Id: rs1905070544
• MyVariant Identifiers: chr17:g.48245371_48245372insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168011dup , CM000679.2:g.50168011dup	GRCh38
NC_000017.10:g.48245372dup , CM000679.1:g.48245372dup	GRCh37
NC_000017.9:g.45600371dup	NCBI36
NG_008889.1:g.7007dup , LRG_203:g.7007dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.377dup	ENSP00000422030.2:p.Asp126GlufsTer?
ENST00000511303.6:n.102dup
ENST00000512526.2:c.368dup	ENSP00000426606.2:n.368dup
ENST00000682109.1:c.257dup	ENSP00000508041.1:p.Asp86GlufsTer?
ENST00000683226.1:n.87dup
ENST00000683294.1:c.377dup	ENSP00000508134.1:p.Asp126GlufsTer?
ENST00000262018.8:c.377dup MANE Select	ENSP00000262018.3:p.Asp126GlufsTer?
ENST00000262018.7:c.377dup	ENSP00000262018.3:p.Asp126GlufsTer?
ENST00000344627.10:c.377dup	ENSP00000345522.6:p.Asp126GlufsTer?
ENST00000502555.5:c.*36dup	ENSP00000422817.1:n.*36dup
ENST00000511303.5:c.98dup	ENSP00000426104.1:p.Asp33GlufsTer?
ENST00000512526.1:c.212dup
ENST00000513821.5:c.377dup	ENSP00000426571.1:p.Asp126GlufsTer?
ENST00000513942.5:n.168dup
ENST00000514934.1:c.*83dup	ENSP00000423168.1:n.*83dup
NM_000023.2:c.377dup , LRG_203t1:c.377dup	NP_000014.1:p.Asp126GlufsTer?
NM_001135697.1:c.377dup	NP_001129169.1:p.Asp126GlufsTer?
XM_011525120.1:c.377dup	XP_011523422.1:p.Asp126GlufsTer?
XM_011525121.1:c.377dup	XP_011523423.1:p.Asp126GlufsTer?
XM_011525122.1:c.377dup	XP_011523424.1:p.Asp126GlufsTer?
XM_011525123.1:c.377dup	XP_011523425.1:p.Asp126GlufsTer?
XM_011525124.1:c.71dup	XP_011523426.1:p.Asp24GlufsTer?
XR_934517.1:n.443dup
NM_000023.3:c.377dup	NP_000014.1:p.Asp126GlufsTer?
NM_001135697.2:c.377dup	NP_001129169.1:p.Asp126GlufsTer?
NR_135553.1:n.433dup
XM_011525120.2:c.539dup	XP_011523422.2:p.Asp180GlufsTer?
XM_011525121.2:c.539dup	XP_011523423.2:p.Asp180GlufsTer?
XM_011525122.2:c.539dup	XP_011523424.2:p.Asp180GlufsTer?
XM_011525123.2:c.539dup	XP_011523425.2:p.Asp180GlufsTer?
XM_011525124.2:c.71dup	XP_011523426.1:p.Asp24GlufsTer?
XM_024450873.1:c.71dup	XP_024306641.1:p.Asp24GlufsTer?
XR_002958056.1:n.895dup
NM_000023.4:c.377dup MANE Select	NP_000014.1:p.Asp126GlufsTer?
NM_001135697.3:c.377dup	NP_001129169.1:p.Asp126GlufsTer?
NR_135553.2:n.413dup