Canonical Allele Identifier: CA658798901

Gene: SGCA

Linked Data

• ClinVar Variation Id: 497173
• ClinVar RCV Id: RCV002530966
• dbSNP Id: rs1555568264
• gnomAD v3: 17-50167589-AC-A
• gnomAD v4: 17-50167589-AC-A
• MyVariant Identifiers: chr17:g.48244953del (hg19) ; chr17:g.50167592del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167592del , CM000679.2:g.50167592del	GRCh38
NC_000017.10:g.48244953del , CM000679.1:g.48244953del	GRCh37
NC_000017.9:g.45599952del	NCBI36
NG_008889.1:g.6588del , LRG_203:g.6588del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.168del	ENSP00000422030.2:p.Ala57LeufsTer?
ENST00000511303.6:n.38-355del
ENST00000512526.2:c.168del	ENSP00000426606.2:p.Ala57LeufsTer?
ENST00000682109.1:c.48del	ENSP00000508041.1:p.Ala17LeufsTer?
ENST00000683294.1:c.168del	ENSP00000508134.1:p.Ala57LeufsTer?
ENST00000262018.8:c.168del MANE Select	ENSP00000262018.3:p.Ala57LeufsTer?
ENST00000262018.7:c.168del	ENSP00000262018.3:p.Ala57LeufsTer?
ENST00000344627.10:c.168del	ENSP00000345522.6:p.Ala57LeufsTer?
ENST00000502555.5:c.157+105del	ENSP00000422817.1:n.157+105del
ENST00000511303.5:c.34-355del	ENSP00000426104.1:n.34-355del
ENST00000512526.1:c.12del
ENST00000513821.5:c.168del	ENSP00000426571.1:p.Ala57LeufsTer?
ENST00000513942.5:n.104-355del
ENST00000514934.1:c.*18+105del	ENSP00000423168.1:n.*18+105del
NM_000023.2:c.168del , LRG_203t1:c.168del	NP_000014.1:p.Ala57LeufsTer?
NM_001135697.1:c.168del	NP_001129169.1:p.Ala57LeufsTer?
XM_011525120.1:c.168del	XP_011523422.1:p.Ala57LeufsTer?
XM_011525121.1:c.168del	XP_011523423.1:p.Ala57LeufsTer?
XM_011525122.1:c.168del	XP_011523424.1:p.Ala57LeufsTer?
XM_011525123.1:c.168del	XP_011523425.1:p.Ala57LeufsTer?
XM_011525124.1:c.6+105del	XP_011523426.1:n.6+105del
XR_934517.1:n.234del
NM_000023.3:c.168del	NP_000014.1:p.Ala57LeufsTer?
NM_001135697.2:c.168del	NP_001129169.1:p.Ala57LeufsTer?
NR_135553.1:n.224del
XM_011525120.2:c.330del	XP_011523422.2:p.Ala111LeufsTer?
XM_011525121.2:c.330del	XP_011523423.2:p.Ala111LeufsTer?
XM_011525122.2:c.330del	XP_011523424.2:p.Ala111LeufsTer?
XM_011525123.2:c.330del	XP_011523425.2:p.Ala111LeufsTer?
XM_011525124.2:c.6+105del	XP_011523426.1:n.6+105del
XM_024450873.1:c.6+105del	XP_024306641.1:n.6+105del
XR_002958056.1:n.686del
NM_000023.4:c.168del MANE Select	NP_000014.1:p.Ala57LeufsTer?
NM_001135697.3:c.168del	NP_001129169.1:p.Ala57LeufsTer?
NR_135553.2:n.204del