Canonical Allele Identifier: CA10606856
Gene: SGCA HGNC NCBI

Linked Data

ClinVar Variation Id: 290641
ClinVar RCV Id: RCV000343707
dbSNP Id: rs886044516
MyVariant Identifiers: chr17:g.48244946del (hg19) chr17:g.50167585del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50167585del , CM000679.2:g.50167585del GRCh38
NC_000017.10:g.48244946del , CM000679.1:g.48244946del GRCh37
NC_000017.9:g.45599945del NCBI36
NG_008889.1:g.6581del , LRG_203:g.6581del

Transcript Alleles

HGVS Amino-acid change
ENST00000504073.2:c.161del ENSP00000422030.2:p.Val54AlafsTer?
ENST00000511303.6:n.38-362del
ENST00000512526.2:c.161del ENSP00000426606.2:p.Val54AlafsTer?
ENST00000682109.1:c.41del ENSP00000508041.1:p.Val14AlafsTer?
ENST00000683294.1:c.161del ENSP00000508134.1:p.Val54AlafsTer?
ENST00000262018.8:c.161del MANE Select ENSP00000262018.3:p.Val54AlafsTer?
ENST00000262018.7:c.161del ENSP00000262018.3:p.Val54AlafsTer?
ENST00000344627.10:c.161del ENSP00000345522.6:p.Val54AlafsTer?
ENST00000502555.5:c.157+98del ENSP00000422817.1:n.157+98del
ENST00000511303.5:c.34-362del ENSP00000426104.1:n.34-362del
ENST00000512526.1:c.5del
ENST00000513821.5:c.161del ENSP00000426571.1:p.Val54AlafsTer?
ENST00000513942.5:n.104-362del
ENST00000514934.1:c.*18+98del ENSP00000423168.1:n.*18+98del
NM_000023.2:c.161del , LRG_203t1:c.161del NP_000014.1:p.Val54AlafsTer?
NM_001135697.1:c.161del NP_001129169.1:p.Val54AlafsTer?
XM_011525120.1:c.161del XP_011523422.1:p.Val54AlafsTer?
XM_011525121.1:c.161del XP_011523423.1:p.Val54AlafsTer?
XM_011525122.1:c.161del XP_011523424.1:p.Val54AlafsTer?
XM_011525123.1:c.161del XP_011523425.1:p.Val54AlafsTer?
XM_011525124.1:c.6+98del XP_011523426.1:n.6+98del
XR_934517.1:n.227del
NM_000023.3:c.161del NP_000014.1:p.Val54AlafsTer?
NM_001135697.2:c.161del NP_001129169.1:p.Val54AlafsTer?
NR_135553.1:n.217del
XM_011525120.2:c.323del XP_011523422.2:p.Val108AlafsTer?
XM_011525121.2:c.323del XP_011523423.2:p.Val108AlafsTer?
XM_011525122.2:c.323del XP_011523424.2:p.Val108AlafsTer?
XM_011525123.2:c.323del XP_011523425.2:p.Val108AlafsTer?
XM_011525124.2:c.6+98del XP_011523426.1:n.6+98del
XM_024450873.1:c.6+98del XP_024306641.1:n.6+98del
XR_002958056.1:n.679del
NM_000023.4:c.161del MANE Select NP_000014.1:p.Val54AlafsTer?
NM_001135697.3:c.161del NP_001129169.1:p.Val54AlafsTer?
NR_135553.2:n.197del
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