Canonical Allele Identifier: CA2263906492
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170148_50170149delinsTA , CM000679.2:g.50170148_50170149delinsTA GRCh38
NC_000017.10:g.48247509_48247510delinsTA , CM000679.1:g.48247509_48247510delinsTA GRCh37
NC_000017.9:g.45602508_45602509delinsTA NCBI36
NG_008889.1:g.9144_9145delinsTA , LRG_203:g.9144_9145delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000504073.2:c.603_604delinsTA ENSP00000422030.2:p.Asp201=
ENST00000511303.6:n.310-492_310-491delinsTA
ENST00000512526.2:c.576-492_576-491delinsTA ENSP00000426606.2:n.576-492_576-491delins...
ENST00000682109.1:c.633_634delinsTA ENSP00000508041.1:p.Asp211=
ENST00000683226.1:n.1351_1352delinsTA
ENST00000683294.1:c.*19_*20delinsTA ENSP00000508134.1:n.*19_*20delinsTA
ENST00000683544.1:n.119_120delinsTA
ENST00000262018.8:c.753_754delinsTA MANE Select ENSP00000262018.3:p.Asp251=
ENST00000262018.7:c.753_754delinsTA ENSP00000262018.3:p.Asp251=
ENST00000344627.10:c.585-492_585-491delinsTA ENSP00000345522.6:n.585-492_585-491delins...
ENST00000504073.1:c.70_71delinsTA
ENST00000511303.5:c.306-492_306-491delinsTA ENSP00000426104.1:n.306-492_306-491delins...
ENST00000512526.1:c.420-492_420-491delinsTA
ENST00000513821.5:c.748-492_748-491delinsTA ENSP00000426571.1:n.748-492_748-491delins...
ENST00000513942.5:n.376-492_376-491delinsTA
NM_000023.2:c.753_754delinsTA , LRG_203t1:c.753_754delinsTA NP_000014.1:p.Asp251=
NM_001135697.1:c.585-492_585-491delinsTA NP_001129169.1:n.585-492_585-491delinsTA
XM_011525120.1:c.753_754delinsTA XP_011523422.1:p.Asp251=
XM_011525121.1:c.603_604delinsTA XP_011523423.1:p.Asp201=
XM_011525122.1:c.748-492_748-491delinsTA XP_011523424.1:n.748-492_748-491delinsTA
XM_011525123.1:c.585-492_585-491delinsTA XP_011523425.1:n.585-492_585-491delinsTA
XM_011525124.1:c.447_448delinsTA XP_011523426.1:p.Asp149=
XR_934517.1:n.814-492_814-491delinsTA
NM_000023.3:c.753_754delinsTA NP_000014.1:p.Asp251=
NM_001135697.2:c.585-492_585-491delinsTA NP_001129169.1:n.585-492_585-491delinsTA
NR_135553.1:n.804-492_804-491delinsTA
XM_011525120.2:c.915_916delinsTA XP_011523422.2:p.Asp305=
XM_011525121.2:c.765_766delinsTA XP_011523423.2:p.Asp255=
XM_011525122.2:c.910-492_910-491delinsTA XP_011523424.2:n.910-492_910-491delinsTA
XM_011525123.2:c.747-492_747-491delinsTA XP_011523425.2:n.747-492_747-491delinsTA
XM_011525124.2:c.447_448delinsTA XP_011523426.1:p.Asp149=
XM_024450873.1:c.447_448delinsTA XP_024306641.1:p.Asp149=
XR_002958056.1:n.1350_1351delinsTA
NM_000023.4:c.753_754delinsTA MANE Select NP_000014.1:p.Asp251=
NM_001135697.3:c.585-492_585-491delinsTA NP_001129169.1:n.585-492_585-491delinsTA
NR_135553.2:n.784-492_784-491delinsTA