Canonical Allele Identifier: CA913012751

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48245001_48245002del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167640_50167641del , CM000679.2:g.50167640_50167641del	GRCh38
NC_000017.10:g.48245001_48245002del , CM000679.1:g.48245001_48245002del	GRCh37
NC_000017.9:g.45600000_45600001del	NCBI36
NG_008889.1:g.6636_6637del , LRG_203:g.6636_6637del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.216_217del	ENSP00000422030.2:p.Arg74ValfsTer?
ENST00000511303.6:n.38-307_38-306del
ENST00000512526.2:c.216_217del	ENSP00000426606.2:p.Arg74ValfsTer?
ENST00000682109.1:c.96_97del	ENSP00000508041.1:p.Arg34ValfsTer?
ENST00000683294.1:c.216_217del	ENSP00000508134.1:p.Arg74ValfsTer?
ENST00000262018.8:c.216_217del MANE Select	ENSP00000262018.3:p.Arg74ValfsTer?
ENST00000262018.7:c.216_217del	ENSP00000262018.3:p.Arg74ValfsTer?
ENST00000344627.10:c.216_217del	ENSP00000345522.6:p.Arg74ValfsTer?
ENST00000502555.5:c.157+153_157+154del	ENSP00000422817.1:n.157+153_157+154del
ENST00000511303.5:c.34-307_34-306del	ENSP00000426104.1:n.34-307_34-306del
ENST00000512526.1:c.60_61del
ENST00000513821.5:c.216_217del	ENSP00000426571.1:p.Arg74ValfsTer?
ENST00000513942.5:n.104-307_104-306del
ENST00000514934.1:c.*18+153_*18+154del	ENSP00000423168.1:n.*18+153_*18+154del
NM_000023.2:c.216_217del , LRG_203t1:c.216_217del	NP_000014.1:p.Arg74ValfsTer?
NM_001135697.1:c.216_217del	NP_001129169.1:p.Arg74ValfsTer?
XM_011525120.1:c.216_217del	XP_011523422.1:p.Arg74ValfsTer?
XM_011525121.1:c.216_217del	XP_011523423.1:p.Arg74ValfsTer?
XM_011525122.1:c.216_217del	XP_011523424.1:p.Arg74ValfsTer?
XM_011525123.1:c.216_217del	XP_011523425.1:p.Arg74ValfsTer?
XM_011525124.1:c.6+153_6+154del	XP_011523426.1:n.6+153_6+154del
XR_934517.1:n.282_283del
NM_000023.3:c.216_217del	NP_000014.1:p.Arg74ValfsTer?
NM_001135697.2:c.216_217del	NP_001129169.1:p.Arg74ValfsTer?
NR_135553.1:n.272_273del
XM_011525120.2:c.378_379del	XP_011523422.2:p.Arg128ValfsTer?
XM_011525121.2:c.378_379del	XP_011523423.2:p.Arg128ValfsTer?
XM_011525122.2:c.378_379del	XP_011523424.2:p.Arg128ValfsTer?
XM_011525123.2:c.378_379del	XP_011523425.2:p.Arg128ValfsTer?
XM_011525124.2:c.6+153_6+154del	XP_011523426.1:n.6+153_6+154del
XM_024450873.1:c.6+153_6+154del	XP_024306641.1:n.6+153_6+154del
XR_002958056.1:n.734_735del
NM_000023.4:c.216_217del MANE Select	NP_000014.1:p.Arg74ValfsTer?
NM_001135697.3:c.216_217del	NP_001129169.1:p.Arg74ValfsTer?
NR_135553.2:n.252_253del