Canonical Allele Identifier: CA16041853
Gene: SGCA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371575
ClinVar RCV Id: RCV000409217
dbSNP Id: rs1057517377

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170149_50170150del , CM000679.2:g.50170149_50170150del GRCh38
NC_000017.10:g.48247510_48247511del , CM000679.1:g.48247510_48247511del GRCh37
NC_000017.9:g.45602509_45602510del NCBI36
NG_008889.1:g.9145_9146del , LRG_203:g.9145_9146del

Transcript Alleles

HGVS Amino-acid change
NM_000023.2:c.754_755del , LRG_203t1:c.754_755del NP_000014.1:p.Lys252ValfsTer8
NM_001135697.1:c.585-491_585-490del VV NP_001129169.1:p.=
XM_011525120.1:c.754_755del XP_011523422.1:p.Lys252ValfsTer8
XM_011525121.1:c.604_605del XP_011523423.1:p.Lys202ValfsTer8
XM_011525122.1:c.748-491_748-490del XP_011523424.1:p.=
XM_011525123.1:c.585-491_585-490del XP_011523425.1:p.=
XM_011525124.1:c.448_449del XP_011523426.1:p.Lys150ValfsTer8
XR_934517.1:n.814-491_814-490del
NM_000023.3:c.754_755del VV NP_000014.1:p.Lys252ValfsTer8
NM_001135697.2:c.585-491_585-490del VV NP_001129169.1:p.=
NR_135553.1:n.804-491_804-490del
XM_011525120.2:c.916_917del XP_011523422.2:p.Lys306ValfsTer8
XM_011525121.2:c.766_767del XP_011523423.2:p.Lys256ValfsTer8
XM_011525122.2:c.910-491_910-490del XP_011523424.2:p.=
XM_011525123.2:c.747-491_747-490del XP_011523425.2:p.=
XM_011525124.2:c.448_449del XP_011523426.1:p.Lys150ValfsTer8
XM_024450873.1:c.448_449del XP_024306641.1:p.Lys150ValfsTer8
XR_002958056.1:n.1351_1352del
NM_000023.4:c.754_755del VV MANE Preferred NP_000014.1:p.Lys252ValfsTer8
ENST00000262018.7:c.754_755del ENSP00000262018.3:p.Lys252ValfsTer8
ENST00000344627.10:c.585-491_585-490del ENSP00000345522.6:p.=
ENST00000504073.1:n.71_72del
ENST00000511303.5:n.306-491_306-490del ENSP00000426104.1:p.=
ENST00000512526.1:n.420-491_420-490del
ENST00000513821.5:c.748-491_748-490del ENSP00000426571.1:p.=
ENST00000513942.5:n.376-491_376-490del