Canonical Allele Identifier: CA2573054476

Gene: SGCA

Linked Data

• ClinVar Variation Id: 1180729
• ClinVar RCV Id: RCV001814458
• dbSNP Id: rs2144495228

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167954_50167964del , CM000679.2:g.50167954_50167964del	GRCh38
NC_000017.10:g.48245315_48245325del , CM000679.1:g.48245315_48245325del	GRCh37
NC_000017.9:g.45600314_45600324del	NCBI36
NG_008889.1:g.6950_6960del , LRG_203:g.6950_6960del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.320_330del	ENSP00000422030.2:p.Ala107GlyfsTer4
ENST00000511303.6:n.45_55del
ENST00000512526.2:c.311_321del	ENSP00000426606.2:p.Ala104GlyfsTer4
ENST00000682109.1:c.200_210del	ENSP00000508041.1:p.Ala67GlyfsTer4
ENST00000683226.1:n.30_40del
ENST00000683294.1:c.320_330del	ENSP00000508134.1:p.Ala107GlyfsTer4
ENST00000262018.8:c.320_330del MANE Select	ENSP00000262018.3:p.Ala107GlyfsTer4
ENST00000262018.7:c.320_330del	ENSP00000262018.3:p.Ala107GlyfsTer4
ENST00000344627.10:c.320_330del	ENSP00000345522.6:p.Ala107GlyfsTer4
ENST00000502555.5:c.165_175del	ENSP00000422817.1:p.Ser55ArgfsTer?
ENST00000511303.5:c.41_51del	ENSP00000426104.1:p.Ala14GlyfsTer4
ENST00000512526.1:c.155_165del
ENST00000513821.5:c.320_330del	ENSP00000426571.1:p.Ala107GlyfsTer4
ENST00000513942.5:n.111_121del
ENST00000514934.1:c.*26_*36del	ENSP00000423168.1:n.*26_*36del
NM_000023.2:c.320_330del , LRG_203t1:c.320_330del	NP_000014.1:p.Ala107GlyfsTer4
NM_001135697.1:c.320_330del	NP_001129169.1:p.Ala107GlyfsTer4
XM_011525120.1:c.320_330del	XP_011523422.1:p.Ala107GlyfsTer4
XM_011525121.1:c.320_330del	XP_011523423.1:p.Ala107GlyfsTer4
XM_011525122.1:c.320_330del	XP_011523424.1:p.Ala107GlyfsTer4
XM_011525123.1:c.320_330del	XP_011523425.1:p.Ala107GlyfsTer4
XM_011525124.1:c.14_24del	XP_011523426.1:p.Ala5GlyfsTer4
XR_934517.1:n.386_396del
NM_000023.3:c.320_330del	NP_000014.1:p.Ala107GlyfsTer4
NM_001135697.2:c.320_330del	NP_001129169.1:p.Ala107GlyfsTer4
NR_135553.1:n.376_386del
XM_011525120.2:c.482_492del	XP_011523422.2:p.Ala161GlyfsTer4
XM_011525121.2:c.482_492del	XP_011523423.2:p.Ala161GlyfsTer4
XM_011525122.2:c.482_492del	XP_011523424.2:p.Ala161GlyfsTer4
XM_011525123.2:c.482_492del	XP_011523425.2:p.Ala161GlyfsTer4
XM_011525124.2:c.14_24del	XP_011523426.1:p.Ala5GlyfsTer4
XM_024450873.1:c.14_24del	XP_024306641.1:p.Ala5GlyfsTer4
XR_002958056.1:n.838_848del
NM_000023.4:c.320_330del MANE Select	NP_000014.1:p.Ala107GlyfsTer4
NM_001135697.3:c.320_330del	NP_001129169.1:p.Ala107GlyfsTer4
NR_135553.2:n.356_366del