Canonical Allele Identifier: CA8643811

Gene: SGCA

Linked Data

• ClinVar Variation Id: 370116
• ClinVar RCV Id: RCV000410508 ; RCV001008811
• dbSNP Id: rs763986788
• ExAC: 17:48245831 T / TG
• gnomAD v2: 17-48245831-T-TG
• gnomAD v4: 17-50168470-T-TG
• MyVariant Identifiers: chr17:g.48245837dupG (hg19) ; chr17:g.48245831_48245832insG (hg19) ; chr17:g.50168476dupG (hg38) ; chr17:g.50168470_50168471insG (hg38)
• PubMed: PMID:18996010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168476dup , CM000679.2:g.50168476dup	GRCh38
NC_000017.10:g.48245837dup , CM000679.1:g.48245837dup	GRCh37
NC_000017.9:g.45600836dup	NCBI36
NG_008889.1:g.7472dup , LRG_203:g.7472dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.488dup	ENSP00000422030.2:p.Leu164ThrfsTer27
ENST00000511303.6:n.213dup
ENST00000512526.2:c.479dup	ENSP00000426606.2:n.479dup
ENST00000682109.1:c.368dup	ENSP00000508041.1:p.Leu124ThrfsTer27
ENST00000683226.1:n.198dup
ENST00000683294.1:c.488dup	ENSP00000508134.1:p.Leu164ThrfsTer27
ENST00000262018.8:c.488dup MANE Select	ENSP00000262018.3:p.Leu164ThrfsTer27
ENST00000262018.7:c.488dup	ENSP00000262018.3:p.Leu164ThrfsTer27
ENST00000344627.10:c.488dup	ENSP00000345522.6:p.Leu164ThrfsTer27
ENST00000502555.5:c.*147dup	ENSP00000422817.1:n.*147dup
ENST00000511303.5:c.209dup	ENSP00000426104.1:p.Leu71ThrfsTer27
ENST00000512526.1:c.323dup
ENST00000513821.5:c.488dup	ENSP00000426571.1:p.Leu164ThrfsTer27
ENST00000513942.5:n.279dup
ENST00000514934.1:c.*194dup	ENSP00000423168.1:n.*194dup
NM_000023.2:c.488dup , LRG_203t1:c.488dup	NP_000014.1:p.Leu164ThrfsTer27
NM_001135697.1:c.488dup	NP_001129169.1:p.Leu164ThrfsTer27
XM_011525120.1:c.488dup	XP_011523422.1:p.Leu164ThrfsTer27
XM_011525121.1:c.488dup	XP_011523423.1:p.Leu164ThrfsTer27
XM_011525122.1:c.488dup	XP_011523424.1:p.Leu164ThrfsTer27
XM_011525123.1:c.488dup	XP_011523425.1:p.Leu164ThrfsTer27
XM_011525124.1:c.182dup	XP_011523426.1:p.Leu62ThrfsTer27
XR_934517.1:n.554dup
NM_000023.3:c.488dup	NP_000014.1:p.Leu164ThrfsTer27
NM_001135697.2:c.488dup	NP_001129169.1:p.Leu164ThrfsTer27
NR_135553.1:n.544dup
XM_011525120.2:c.650dup	XP_011523422.2:p.Leu218ThrfsTer27
XM_011525121.2:c.650dup	XP_011523423.2:p.Leu218ThrfsTer27
XM_011525122.2:c.650dup	XP_011523424.2:p.Leu218ThrfsTer27
XM_011525123.2:c.650dup	XP_011523425.2:p.Leu218ThrfsTer27
XM_011525124.2:c.182dup	XP_011523426.1:p.Leu62ThrfsTer27
XM_024450873.1:c.182dup	XP_024306641.1:p.Leu62ThrfsTer27
XR_002958056.1:n.1006dup
NM_000023.4:c.488dup MANE Select	NP_000014.1:p.Leu164ThrfsTer27
NM_001135697.3:c.488dup	NP_001129169.1:p.Leu164ThrfsTer27
NR_135553.2:n.524dup