Canonical Allele Identifier: CA16041851
Gene: SGCA HGNC NCBI

Linked Data

ClinVar Variation Id: 370946
ClinVar RCV Id: RCV000409089
dbSNP Id: rs1057516888
MyVariant Identifiers: chr17:g.48245908del (hg19) chr17:g.50168547del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168547del , CM000679.2:g.50168547del GRCh38
NC_000017.10:g.48245908del , CM000679.1:g.48245908del GRCh37
NC_000017.9:g.45600907del NCBI36
NG_008889.1:g.7543del , LRG_203:g.7543del

Transcript Alleles

HGVS Amino-acid change
ENST00000504073.2:c.559del ENSP00000422030.2:p.Leu187PhefsTer?
ENST00000511303.6:n.284del
ENST00000512526.2:c.550del ENSP00000426606.2:n.550del
ENST00000682109.1:c.439del ENSP00000508041.1:p.Leu147PhefsTer24
ENST00000683226.1:n.269del
ENST00000683294.1:c.559del ENSP00000508134.1:p.Leu187PhefsTer24
ENST00000262018.8:c.559del MANE Select ENSP00000262018.3:p.Leu187PhefsTer24
ENST00000262018.7:c.559del ENSP00000262018.3:p.Leu187PhefsTer24
ENST00000344627.10:c.559del ENSP00000345522.6:p.Leu187PhefsTer10
ENST00000502555.5:c.*218del ENSP00000422817.1:n.*218del
ENST00000504073.1:c.26del
ENST00000511303.5:c.280del ENSP00000426104.1:p.Leu94PhefsTer10
ENST00000512526.1:c.394del
ENST00000513821.5:c.559del ENSP00000426571.1:p.Leu187PhefsTer24
ENST00000513942.5:n.350del
ENST00000514934.1:c.*265del ENSP00000423168.1:n.*265del
NM_000023.2:c.559del , LRG_203t1:c.559del NP_000014.1:p.Leu187PhefsTer24
NM_001135697.1:c.559del NP_001129169.1:p.Leu187PhefsTer10
XM_011525120.1:c.559del XP_011523422.1:p.Leu187PhefsTer24
XM_011525121.1:c.559del XP_011523423.1:p.Leu187PhefsTer?
XM_011525122.1:c.559del XP_011523424.1:p.Leu187PhefsTer24
XM_011525123.1:c.559del XP_011523425.1:p.Leu187PhefsTer10
XM_011525124.1:c.253del XP_011523426.1:p.Leu85PhefsTer24
XR_934517.1:n.625del
NM_000023.3:c.559del NP_000014.1:p.Leu187PhefsTer24
NM_001135697.2:c.559del NP_001129169.1:p.Leu187PhefsTer10
NR_135553.1:n.615del
XM_011525120.2:c.721del XP_011523422.2:p.Leu241PhefsTer24
XM_011525121.2:c.721del XP_011523423.2:p.Leu241PhefsTer?
XM_011525122.2:c.721del XP_011523424.2:p.Leu241PhefsTer24
XM_011525123.2:c.721del XP_011523425.2:p.Leu241PhefsTer10
XM_011525124.2:c.253del XP_011523426.1:p.Leu85PhefsTer24
XM_024450873.1:c.253del XP_024306641.1:p.Leu85PhefsTer24
XR_002958056.1:n.1077del
NM_000023.4:c.559del MANE Select NP_000014.1:p.Leu187PhefsTer24
NM_001135697.3:c.559del NP_001129169.1:p.Leu187PhefsTer10
NR_135553.2:n.595del
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