Canonical Allele Identifier: CA10603379
Gene: SGCA HGNC NCBI

Linked Data

ClinVar Variation Id: 280105
dbSNP Id: rs886041387

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168518del , CM000679.2:g.50168518del GRCh38
NC_000017.10:g.48245879del , CM000679.1:g.48245879del GRCh37
NC_000017.9:g.45600878del NCBI36
NG_008889.1:g.7514del , LRG_203:g.7514del

Transcript Alleles

HGVS Amino-acid change
ENST00000504073.2:c.530del ENSP00000422030.2:p.Ser177LeufsTer?
ENST00000511303.6:n.255del
ENST00000512526.2:c.521del ENSP00000426606.2:n.521del
ENST00000682109.1:c.410del ENSP00000508041.1:p.Ser137LeufsTer?
ENST00000683226.1:n.240del
ENST00000683294.1:c.530del ENSP00000508134.1:p.Ser177LeufsTer?
ENST00000262018.8:c.530del MANE Select ENSP00000262018.3:p.Ser177LeufsTer?
ENST00000262018.7:c.530del ENSP00000262018.3:p.Ser177LeufsTer?
ENST00000344627.10:c.530del ENSP00000345522.6:p.Ser177LeufsTer20
ENST00000502555.5:c.*189del ENSP00000422817.1:n.*189del
ENST00000511303.5:c.251del ENSP00000426104.1:p.Ser84LeufsTer20
ENST00000512526.1:c.365del
ENST00000513821.5:c.530del ENSP00000426571.1:p.Ser177LeufsTer?
ENST00000513942.5:n.321del
ENST00000514934.1:c.*236del ENSP00000423168.1:n.*236del
NM_000023.2:c.530del , LRG_203t1:c.530del NP_000014.1:p.Ser177LeufsTer?
NM_001135697.1:c.530del NP_001129169.1:p.Ser177LeufsTer20
XM_011525120.1:c.530del XP_011523422.1:p.Ser177LeufsTer?
XM_011525121.1:c.530del XP_011523423.1:p.Ser177LeufsTer?
XM_011525122.1:c.530del XP_011523424.1:p.Ser177LeufsTer?
XM_011525123.1:c.530del XP_011523425.1:p.Ser177LeufsTer20
XM_011525124.1:c.224del XP_011523426.1:p.Ser75LeufsTer?
XR_934517.1:n.596del
NM_000023.3:c.530del NP_000014.1:p.Ser177LeufsTer?
NM_001135697.2:c.530del NP_001129169.1:p.Ser177LeufsTer20
NR_135553.1:n.586del
XM_011525120.2:c.692del XP_011523422.2:p.Ser231LeufsTer?
XM_011525121.2:c.692del XP_011523423.2:p.Ser231LeufsTer?
XM_011525122.2:c.692del XP_011523424.2:p.Ser231LeufsTer?
XM_011525123.2:c.692del XP_011523425.2:p.Ser231LeufsTer20
XM_011525124.2:c.224del XP_011523426.1:p.Ser75LeufsTer?
XM_024450873.1:c.224del XP_024306641.1:p.Ser75LeufsTer?
XR_002958056.1:n.1048del
NM_000023.4:c.530del MANE Select NP_000014.1:p.Ser177LeufsTer?
NM_001135697.3:c.530del NP_001129169.1:p.Ser177LeufsTer20
NR_135553.2:n.566del