Canonical Allele Identifier: CA16041849
Gene: SGCA HGNC NCBI

Linked Data

ClinVar Variation Id: 371273
ClinVar RCV Id: RCV000412176
dbSNP Id: rs1057517142
MyVariant Identifiers: chr17:g.48245829_48245830del (hg19) chr17:g.50168468_50168469del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168468_50168469del , CM000679.2:g.50168468_50168469del GRCh38
NC_000017.10:g.48245829_48245830del , CM000679.1:g.48245829_48245830del GRCh37
NC_000017.9:g.45600828_45600829del NCBI36
NG_008889.1:g.7464_7465del , LRG_203:g.7464_7465del

Transcript Alleles

HGVS Amino-acid change
ENST00000504073.2:c.480_481del ENSP00000422030.2:p.Leu161GlyfsTer29
ENST00000511303.6:n.205_206del
ENST00000512526.2:c.471_472del ENSP00000426606.2:n.471_472del
ENST00000682109.1:c.360_361del ENSP00000508041.1:p.Leu121GlyfsTer29
ENST00000683226.1:n.190_191del
ENST00000683294.1:c.480_481del ENSP00000508134.1:p.Leu161GlyfsTer29
ENST00000262018.8:c.480_481del MANE Select ENSP00000262018.3:p.Leu161GlyfsTer29
ENST00000262018.7:c.480_481del ENSP00000262018.3:p.Leu161GlyfsTer29
ENST00000344627.10:c.480_481del ENSP00000345522.6:p.Leu161GlyfsTer29
ENST00000502555.5:c.*139_*140del ENSP00000422817.1:n.*139_*140del
ENST00000511303.5:c.201_202del ENSP00000426104.1:p.Leu68GlyfsTer29
ENST00000512526.1:c.315_316del
ENST00000513821.5:c.480_481del ENSP00000426571.1:p.Leu161GlyfsTer29
ENST00000513942.5:n.271_272del
ENST00000514934.1:c.*186_*187del ENSP00000423168.1:n.*186_*187del
NM_000023.2:c.480_481del , LRG_203t1:c.480_481del NP_000014.1:p.Leu161GlyfsTer29
NM_001135697.1:c.480_481del NP_001129169.1:p.Leu161GlyfsTer29
XM_011525120.1:c.480_481del XP_011523422.1:p.Leu161GlyfsTer29
XM_011525121.1:c.480_481del XP_011523423.1:p.Leu161GlyfsTer29
XM_011525122.1:c.480_481del XP_011523424.1:p.Leu161GlyfsTer29
XM_011525123.1:c.480_481del XP_011523425.1:p.Leu161GlyfsTer29
XM_011525124.1:c.174_175del XP_011523426.1:p.Leu59GlyfsTer29
XR_934517.1:n.546_547del
NM_000023.3:c.480_481del NP_000014.1:p.Leu161GlyfsTer29
NM_001135697.2:c.480_481del NP_001129169.1:p.Leu161GlyfsTer29
NR_135553.1:n.536_537del
XM_011525120.2:c.642_643del XP_011523422.2:p.Leu215GlyfsTer29
XM_011525121.2:c.642_643del XP_011523423.2:p.Leu215GlyfsTer29
XM_011525122.2:c.642_643del XP_011523424.2:p.Leu215GlyfsTer29
XM_011525123.2:c.642_643del XP_011523425.2:p.Leu215GlyfsTer29
XM_011525124.2:c.174_175del XP_011523426.1:p.Leu59GlyfsTer29
XM_024450873.1:c.174_175del XP_024306641.1:p.Leu59GlyfsTer29
XR_002958056.1:n.998_999del
NM_000023.4:c.480_481del MANE Select NP_000014.1:p.Leu161GlyfsTer29
NM_001135697.3:c.480_481del NP_001129169.1:p.Leu161GlyfsTer29
NR_135553.2:n.516_517del
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