Canonical Allele Identifier: CA2263906493

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170148_50170150delinsTAA , CM000679.2:g.50170148_50170150delinsTAA	GRCh38
NC_000017.10:g.48247509_48247511delinsTAA , CM000679.1:g.48247509_48247511delinsTAA	GRCh37
NC_000017.9:g.45602508_45602510delinsTAA	NCBI36
NG_008889.1:g.9144_9146delinsTAA , LRG_203:g.9144_9146delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.603_605delinsTAA	ENSP00000422030.2:p.Asp201=
ENST00000511303.6:n.310-492_310-490delinsTAA
ENST00000512526.2:c.576-492_576-490delinsTAA	ENSP00000426606.2:n.576-492_576-490delinsTAA
ENST00000682109.1:c.633_635delinsTAA	ENSP00000508041.1:p.Asp211=
ENST00000683226.1:n.1351_1353delinsTAA
ENST00000683294.1:c.*19_*21delinsTAA	ENSP00000508134.1:n.*19_*21delinsTAA
ENST00000683544.1:n.119_121delinsTAA
ENST00000262018.8:c.753_755delinsTAA MANE Select	ENSP00000262018.3:p.Asp251=
ENST00000262018.7:c.753_755delinsTAA	ENSP00000262018.3:p.Asp251=
ENST00000344627.10:c.585-492_585-490delinsTAA	ENSP00000345522.6:n.585-492_585-490delinsTAA
ENST00000504073.1:c.70_72delinsTAA
ENST00000511303.5:c.306-492_306-490delinsTAA	ENSP00000426104.1:n.306-492_306-490delinsTAA
ENST00000512526.1:c.420-492_420-490delinsTAA
ENST00000513821.5:c.748-492_748-490delinsTAA	ENSP00000426571.1:n.748-492_748-490delinsTAA
ENST00000513942.5:n.376-492_376-490delinsTAA
NM_000023.2:c.753_755delinsTAA , LRG_203t1:c.753_755delinsTAA	NP_000014.1:p.Asp251=
NM_001135697.1:c.585-492_585-490delinsTAA	NP_001129169.1:n.585-492_585-490delinsTAA
XM_011525120.1:c.753_755delinsTAA	XP_011523422.1:p.Asp251=
XM_011525121.1:c.603_605delinsTAA	XP_011523423.1:p.Asp201=
XM_011525122.1:c.748-492_748-490delinsTAA	XP_011523424.1:n.748-492_748-490delinsTAA
XM_011525123.1:c.585-492_585-490delinsTAA	XP_011523425.1:n.585-492_585-490delinsTAA
XM_011525124.1:c.447_449delinsTAA	XP_011523426.1:p.Asp149=
XR_934517.1:n.814-492_814-490delinsTAA
NM_000023.3:c.753_755delinsTAA	NP_000014.1:p.Asp251=
NM_001135697.2:c.585-492_585-490delinsTAA	NP_001129169.1:n.585-492_585-490delinsTAA
NR_135553.1:n.804-492_804-490delinsTAA
XM_011525120.2:c.915_917delinsTAA	XP_011523422.2:p.Asp305=
XM_011525121.2:c.765_767delinsTAA	XP_011523423.2:p.Asp255=
XM_011525122.2:c.910-492_910-490delinsTAA	XP_011523424.2:n.910-492_910-490delinsTAA
XM_011525123.2:c.747-492_747-490delinsTAA	XP_011523425.2:n.747-492_747-490delinsTAA
XM_011525124.2:c.447_449delinsTAA	XP_011523426.1:p.Asp149=
XM_024450873.1:c.447_449delinsTAA	XP_024306641.1:p.Asp149=
XR_002958056.1:n.1350_1352delinsTAA
NM_000023.4:c.753_755delinsTAA MANE Select	NP_000014.1:p.Asp251=
NM_001135697.3:c.585-492_585-490delinsTAA	NP_001129169.1:n.585-492_585-490delinsTAA
NR_135553.2:n.784-492_784-490delinsTAA