Canonical Allele Identifier: CA2695226375

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168392_50168399dup , CM000679.2:g.50168392_50168399dup	GRCh38
NC_000017.10:g.48245753_48245760dup , CM000679.1:g.48245753_48245760dup	GRCh37
NC_000017.9:g.45600752_45600759dup	NCBI36
NG_008889.1:g.7388_7395dup , LRG_203:g.7388_7395dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.404_411dup	ENSP00000422030.2:p.Phe138LysfsTer?
ENST00000511303.6:n.129_136dup
ENST00000512526.2:c.395_402dup	ENSP00000426606.2:n.395_402dup
ENST00000682109.1:c.284_291dup	ENSP00000508041.1:p.Phe98LysfsTer?
ENST00000683226.1:n.114_121dup
ENST00000683294.1:c.404_411dup	ENSP00000508134.1:p.Phe138LysfsTer?
ENST00000262018.8:c.404_411dup MANE Select	ENSP00000262018.3:p.Phe138LysfsTer?
ENST00000262018.7:c.404_411dup	ENSP00000262018.3:p.Phe138LysfsTer?
ENST00000344627.10:c.404_411dup	ENSP00000345522.6:p.Phe138LysfsTer?
ENST00000502555.5:c.*63_*70dup	ENSP00000422817.1:n.*63_*70dup
ENST00000511303.5:c.125_132dup	ENSP00000426104.1:p.Phe45LysfsTer?
ENST00000512526.1:c.239_246dup
ENST00000513821.5:c.404_411dup	ENSP00000426571.1:p.Phe138LysfsTer?
ENST00000513942.5:n.195_202dup
ENST00000514934.1:c.*110_*117dup	ENSP00000423168.1:n.*110_*117dup
NM_000023.2:c.404_411dup , LRG_203t1:c.404_411dup	NP_000014.1:p.Phe138LysfsTer?
NM_001135697.1:c.404_411dup	NP_001129169.1:p.Phe138LysfsTer?
XM_011525120.1:c.404_411dup	XP_011523422.1:p.Phe138LysfsTer?
XM_011525121.1:c.404_411dup	XP_011523423.1:p.Phe138LysfsTer?
XM_011525122.1:c.404_411dup	XP_011523424.1:p.Phe138LysfsTer?
XM_011525123.1:c.404_411dup	XP_011523425.1:p.Phe138LysfsTer?
XM_011525124.1:c.98_105dup	XP_011523426.1:p.Phe36LysfsTer?
XR_934517.1:n.470_477dup
NM_000023.3:c.404_411dup	NP_000014.1:p.Phe138LysfsTer?
NM_001135697.2:c.404_411dup	NP_001129169.1:p.Phe138LysfsTer?
NR_135553.1:n.460_467dup
XM_011525120.2:c.566_573dup	XP_011523422.2:p.Phe192LysfsTer?
XM_011525121.2:c.566_573dup	XP_011523423.2:p.Phe192LysfsTer?
XM_011525122.2:c.566_573dup	XP_011523424.2:p.Phe192LysfsTer?
XM_011525123.2:c.566_573dup	XP_011523425.2:p.Phe192LysfsTer?
XM_011525124.2:c.98_105dup	XP_011523426.1:p.Phe36LysfsTer?
XM_024450873.1:c.98_105dup	XP_024306641.1:p.Phe36LysfsTer?
XR_002958056.1:n.922_929dup
NM_000023.4:c.404_411dup MANE Select	NP_000014.1:p.Phe138LysfsTer?
NM_001135697.3:c.404_411dup	NP_001129169.1:p.Phe138LysfsTer?
NR_135553.2:n.440_447dup