Canonical Allele Identifier: CA919856185

Gene: SGCA

Linked Data

• dbSNP Id: rs1598266970
• gnomAD v4: 17-50168396-C-CCCTGGTGCGCAGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168396_50168397insCCTGGTGCGCAGCCA , CM000679.2:g.50168396_50168397insCCTGGTGCGCAGCCA	GRCh38
NC_000017.10:g.48245757_48245758insCCTGGTGCGCAGCCA , CM000679.1:g.48245757_48245758insCCTGGTGCGCAGCCA	GRCh37
NC_000017.9:g.45600756_45600757insCCTGGTGCGCAGCCA	NCBI36
NG_008889.1:g.7392_7393insCCTGGTGCGCAGCCA , LRG_203:g.7392_7393insCCTGGTGCGCAGCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.408_409insCCTGGTGCGCAGCCA	ENSP00000422030.2:p.Ala136_Glu137insProGl...
ENST00000511303.6:n.133_134insCCTGGTGCGCAGCCA
ENST00000512526.2:c.399_400insCCTGGTGCGCAGCCA	ENSP00000426606.2:n.399_400insCCTGGTGCGCA...
ENST00000682109.1:c.288_289insCCTGGTGCGCAGCCA	ENSP00000508041.1:p.Ala96_Glu97insProGlyA...
ENST00000683226.1:n.118_119insCCTGGTGCGCAGCCA
ENST00000683294.1:c.408_409insCCTGGTGCGCAGCCA	ENSP00000508134.1:p.Ala136_Glu137insProGl...
ENST00000262018.8:c.408_409insCCTGGTGCGCAGCCA MANE Select	ENSP00000262018.3:p.Ala136_Glu137insProGl...
ENST00000262018.7:c.408_409insCCTGGTGCGCAGCCA	ENSP00000262018.3:p.Ala136_Glu137insProGl...
ENST00000344627.10:c.408_409insCCTGGTGCGCAGCCA	ENSP00000345522.6:p.Ala136_Glu137insProGl...
ENST00000502555.5:c.*67_*68insCCTGGTGCGCAGCCA	ENSP00000422817.1:n.*67_*68insCCTGGTGCGCA...
ENST00000511303.5:c.129_130insCCTGGTGCGCAGCCA	ENSP00000426104.1:p.Ala43_Glu44insProGlyA...
ENST00000512526.1:c.243_244insCCTGGTGCGCAGCCA
ENST00000513821.5:c.408_409insCCTGGTGCGCAGCCA	ENSP00000426571.1:p.Ala136_Glu137insProGl...
ENST00000513942.5:n.199_200insCCTGGTGCGCAGCCA
ENST00000514934.1:c.*114_*115insCCTGGTGCGCAGCCA	ENSP00000423168.1:n.*114_*115insCCTGGTGCG...
NM_000023.2:c.408_409insCCTGGTGCGCAGCCA , LRG_203t1:c.408_409insCCTGGTGCGCAGCCA	NP_000014.1:p.Ala136_Glu137insProGlyAlaGl...
NM_001135697.1:c.408_409insCCTGGTGCGCAGCCA	NP_001129169.1:p.Ala136_Glu137insProGlyAl...
XM_011525120.1:c.408_409insCCTGGTGCGCAGCCA	XP_011523422.1:p.Ala136_Glu137insProGlyAl...
XM_011525121.1:c.408_409insCCTGGTGCGCAGCCA	XP_011523423.1:p.Ala136_Glu137insProGlyAl...
XM_011525122.1:c.408_409insCCTGGTGCGCAGCCA	XP_011523424.1:p.Ala136_Glu137insProGlyAl...
XM_011525123.1:c.408_409insCCTGGTGCGCAGCCA	XP_011523425.1:p.Ala136_Glu137insProGlyAl...
XM_011525124.1:c.102_103insCCTGGTGCGCAGCCA	XP_011523426.1:p.Ala34_Glu35insProGlyAlaG...
XR_934517.1:n.474_475insCCTGGTGCGCAGCCA
NM_000023.3:c.408_409insCCTGGTGCGCAGCCA	NP_000014.1:p.Ala136_Glu137insProGlyAlaGl...
NM_001135697.2:c.408_409insCCTGGTGCGCAGCCA	NP_001129169.1:p.Ala136_Glu137insProGlyAl...
NR_135553.1:n.464_465insCCTGGTGCGCAGCCA
XM_011525120.2:c.570_571insCCTGGTGCGCAGCCA	XP_011523422.2:p.Ala190_Glu191insProGlyAl...
XM_011525121.2:c.570_571insCCTGGTGCGCAGCCA	XP_011523423.2:p.Ala190_Glu191insProGlyAl...
XM_011525122.2:c.570_571insCCTGGTGCGCAGCCA	XP_011523424.2:p.Ala190_Glu191insProGlyAl...
XM_011525123.2:c.570_571insCCTGGTGCGCAGCCA	XP_011523425.2:p.Ala190_Glu191insProGlyAl...
XM_011525124.2:c.102_103insCCTGGTGCGCAGCCA	XP_011523426.1:p.Ala34_Glu35insProGlyAlaG...
XM_024450873.1:c.102_103insCCTGGTGCGCAGCCA	XP_024306641.1:p.Ala34_Glu35insProGlyAlaG...
XR_002958056.1:n.926_927insCCTGGTGCGCAGCCA
NM_000023.4:c.408_409insCCTGGTGCGCAGCCA MANE Select	NP_000014.1:p.Ala136_Glu137insProGlyAlaGl...
NM_001135697.3:c.408_409insCCTGGTGCGCAGCCA	NP_001129169.1:p.Ala136_Glu137insProGlyAl...
NR_135553.2:n.444_445insCCTGGTGCGCAGCCA