Canonical Allele Identifier: CA2638704742

Gene: SGCA

Linked Data

• gnomAD v4: 17-50168481-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168484del , CM000679.2:g.50168484del	GRCh38
NC_000017.10:g.48245845del , CM000679.1:g.48245845del	GRCh37
NC_000017.9:g.45600844del	NCBI36
NG_008889.1:g.7480del , LRG_203:g.7480del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.496del	ENSP00000422030.2:p.Glu166SerfsTer?
ENST00000511303.6:n.221del
ENST00000512526.2:c.487del	ENSP00000426606.2:n.487del
ENST00000682109.1:c.376del	ENSP00000508041.1:p.Glu126SerfsTer?
ENST00000683226.1:n.206del
ENST00000683294.1:c.496del	ENSP00000508134.1:p.Glu166SerfsTer?
ENST00000262018.8:c.496del MANE Select	ENSP00000262018.3:p.Glu166SerfsTer?
ENST00000262018.7:c.496del	ENSP00000262018.3:p.Glu166SerfsTer?
ENST00000344627.10:c.496del	ENSP00000345522.6:p.Glu166SerfsTer?
ENST00000502555.5:c.*155del	ENSP00000422817.1:n.*155del
ENST00000511303.5:c.217del	ENSP00000426104.1:p.Glu73SerfsTer?
ENST00000512526.1:c.331del
ENST00000513821.5:c.496del	ENSP00000426571.1:p.Glu166SerfsTer?
ENST00000513942.5:n.287del
ENST00000514934.1:c.*202del	ENSP00000423168.1:n.*202del
NM_000023.2:c.496del , LRG_203t1:c.496del	NP_000014.1:p.Glu166SerfsTer?
NM_001135697.1:c.496del	NP_001129169.1:p.Glu166SerfsTer?
XM_011525120.1:c.496del	XP_011523422.1:p.Glu166SerfsTer?
XM_011525121.1:c.496del	XP_011523423.1:p.Glu166SerfsTer?
XM_011525122.1:c.496del	XP_011523424.1:p.Glu166SerfsTer?
XM_011525123.1:c.496del	XP_011523425.1:p.Glu166SerfsTer?
XM_011525124.1:c.190del	XP_011523426.1:p.Glu64SerfsTer?
XR_934517.1:n.562del
NM_000023.3:c.496del	NP_000014.1:p.Glu166SerfsTer?
NM_001135697.2:c.496del	NP_001129169.1:p.Glu166SerfsTer?
NR_135553.1:n.552del
XM_011525120.2:c.658del	XP_011523422.2:p.Glu220SerfsTer?
XM_011525121.2:c.658del	XP_011523423.2:p.Glu220SerfsTer?
XM_011525122.2:c.658del	XP_011523424.2:p.Glu220SerfsTer?
XM_011525123.2:c.658del	XP_011523425.2:p.Glu220SerfsTer?
XM_011525124.2:c.190del	XP_011523426.1:p.Glu64SerfsTer?
XM_024450873.1:c.190del	XP_024306641.1:p.Glu64SerfsTer?
XR_002958056.1:n.1014del
NM_000023.4:c.496del MANE Select	NP_000014.1:p.Glu166SerfsTer?
NM_001135697.3:c.496del	NP_001129169.1:p.Glu166SerfsTer?
NR_135553.2:n.532del