Canonical Allele Identifier: CA658656730

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50169095_50169106del , CM000679.2:g.50169095_50169106del	GRCh38
NC_000017.10:g.48246456_48246467del , CM000679.1:g.48246456_48246467del	GRCh37
NC_000017.9:g.45601455_45601466del	NCBI36
NG_008889.1:g.8091_8102del , LRG_203:g.8091_8102del

Transcript Alleles

HGVS	Amino-acid Change
NM_000023.4:c.588_599del MANE Select	NP_000014.1:p.Tyr197_Val200del
ENST00000262018.8:c.588_599del MANE Select	ENSP00000262018.3:p.Tyr197_Val200del
NM_000023.2:c.588_599del , LRG_203t1:c.588_599del	NP_000014.1:p.Tyr197_Val200del
NM_000023.3:c.588_599del	NP_000014.1:p.Tyr197_Val200del
NM_001135697.1:c.584+523_584+534del	NP_001129169.1:n.584+523_584+534del
NM_001135697.2:c.584+523_584+534del	NP_001129169.1:n.584+523_584+534del
NM_001135697.3:c.584+523_584+534del	NP_001129169.1:n.584+523_584+534del
NR_135553.1:n.644_655del
NR_135553.2:n.624_635del
ENST00000262018.7:c.588_599del	ENSP00000262018.3:p.Tyr197_Val200del
ENST00000344627.10:c.584+523_584+534del	ENSP00000345522.6:n.584+523_584+534del
ENST00000502555.5:c.*247_*258del	ENSP00000422817.1:n.*247_*258del
ENST00000504073.1:c.55_64+2del
ENST00000504073.2:c.588_597+2del
ENST00000511303.5:c.305+523_305+534del	ENSP00000426104.1:n.305+523_305+534del
ENST00000511303.6:n.309+523_309+534del
ENST00000512526.1:c.419+523_419+534del
ENST00000512526.2:c.575+523_575+534del	ENSP00000426606.2:n.575+523_575+534del
ENST00000513821.5:c.588_599del	ENSP00000426571.1:p.Tyr197_Val200del
ENST00000513942.5:n.375+523_375+534del
ENST00000682109.1:c.468_479del	ENSP00000508041.1:p.Tyr157_Val160del
ENST00000683226.1:n.298_309del
ENST00000683294.1:c.588_599del	ENSP00000508134.1:p.Tyr197_Val200del
XM_011525120.1:c.588_599del	XP_011523422.1:p.Tyr197_Val200del
XM_011525120.2:c.750_761del	XP_011523422.2:p.Tyr251_Val254del
XM_011525121.1:c.588_597+2del
XM_011525121.2:c.750_759+2del
XM_011525122.1:c.588_599del	XP_011523424.1:p.Tyr197_Val200del
XM_011525122.2:c.750_761del	XP_011523424.2:p.Tyr251_Val254del
XM_011525123.1:c.584+523_584+534del	XP_011523425.1:n.584+523_584+534del
XM_011525123.2:c.746+523_746+534del	XP_011523425.2:n.746+523_746+534del
XM_011525124.1:c.282_293del	XP_011523426.1:p.Tyr95_Val98del
XM_011525124.2:c.282_293del	XP_011523426.1:p.Tyr95_Val98del
XM_024450873.1:c.282_293del	XP_024306641.1:p.Tyr95_Val98del
XR_002958056.1:n.1106_1117del
XR_934517.1:n.654_665del