Canonical Allele Identifier: CA2580094126

Gene: SGCA

Linked Data

• ClinVar Variation Id: 1726835
• ClinVar RCV Id: RCV002310519

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167414_50167420del , CM000679.2:g.50167414_50167420del	GRCh38
NC_000017.10:g.48244775_48244781del , CM000679.1:g.48244775_48244781del	GRCh37
NC_000017.9:g.45599774_45599780del	NCBI36
NG_008889.1:g.6410_6416del , LRG_203:g.6410_6416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.84_90del	ENSP00000422030.2:p.His29LeufsTer16
ENST00000511303.6:n.38-533_38-527del
ENST00000512526.2:c.84_90del	ENSP00000426606.2:p.His29LeufsTer16
ENST00000682109.1:c.38-168_38-162del	ENSP00000508041.1:n.38-168_38-162del
ENST00000683294.1:c.84_90del	ENSP00000508134.1:p.His29LeufsTer16
ENST00000262018.8:c.84_90del MANE Select	ENSP00000262018.3:p.His29LeufsTer16
ENST00000262018.7:c.84_90del	ENSP00000262018.3:p.His29LeufsTer16
ENST00000344627.10:c.84_90del	ENSP00000345522.6:p.His29LeufsTer16
ENST00000502555.5:c.84_90del	ENSP00000422817.1:p.His29LeufsTer16
ENST00000511303.5:c.34-533_34-527del	ENSP00000426104.1:n.34-533_34-527del
ENST00000513821.5:c.84_90del	ENSP00000426571.1:p.His29LeufsTer16
ENST00000513942.5:n.104-533_104-527del
ENST00000514934.1:c.143_149del	ENSP00000423168.1:p.Tyr48SerfsTer13
NM_000023.2:c.84_90del , LRG_203t1:c.84_90del	NP_000014.1:p.His29LeufsTer16
NM_001135697.1:c.84_90del	NP_001129169.1:p.His29LeufsTer16
XM_011525120.1:c.84_90del	XP_011523422.1:p.His29LeufsTer16
XM_011525121.1:c.84_90del	XP_011523423.1:p.His29LeufsTer16
XM_011525122.1:c.84_90del	XP_011523424.1:p.His29LeufsTer16
XM_011525123.1:c.84_90del	XP_011523425.1:p.His29LeufsTer16
XM_011525124.1:c.-68_-62del	XP_011523426.1:n.-68_-62del
XR_934517.1:n.150_156del
NM_000023.3:c.84_90del	NP_000014.1:p.His29LeufsTer16
NM_001135697.2:c.84_90del	NP_001129169.1:p.His29LeufsTer16
NR_135553.1:n.140_146del
XM_011525120.2:c.246_252del	XP_011523422.2:p.His83LeufsTer16
XM_011525121.2:c.246_252del	XP_011523423.2:p.His83LeufsTer16
XM_011525122.2:c.246_252del	XP_011523424.2:p.His83LeufsTer16
XM_011525123.2:c.246_252del	XP_011523425.2:p.His83LeufsTer16
XM_011525124.2:c.-68_-62del	XP_011523426.1:n.-68_-62del
XM_024450873.1:c.-68_-62del	XP_024306641.1:n.-68_-62del
XR_002958056.1:n.602_608del
NM_000023.4:c.84_90del MANE Select	NP_000014.1:p.His29LeufsTer16
NM_001135697.3:c.84_90del	NP_001129169.1:p.His29LeufsTer16
NR_135553.2:n.120_126del