Canonical Allele Identifier: CA2263905325

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167585_50167587delinsTCC , CM000679.2:g.50167585_50167587delinsTCC	GRCh38
NC_000017.10:g.48244946_48244948delinsTCC , CM000679.1:g.48244946_48244948delinsTCC	GRCh37
NC_000017.9:g.45599945_45599947delinsTCC	NCBI36
NG_008889.1:g.6581_6583delinsTCC , LRG_203:g.6581_6583delinsTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.161_163delinsTCC	ENSP00000422030.2:p.Val54=
ENST00000511303.6:n.38-362_38-360delinsTCC
ENST00000512526.2:c.161_163delinsTCC	ENSP00000426606.2:p.Val54=
ENST00000682109.1:c.41_43delinsTCC	ENSP00000508041.1:p.Val14=
ENST00000683294.1:c.161_163delinsTCC	ENSP00000508134.1:p.Val54=
ENST00000262018.8:c.161_163delinsTCC MANE Select	ENSP00000262018.3:p.Val54=
ENST00000262018.7:c.161_163delinsTCC	ENSP00000262018.3:p.Val54=
ENST00000344627.10:c.161_163delinsTCC	ENSP00000345522.6:p.Val54=
ENST00000502555.5:c.157+98_157+100delinsTCC	ENSP00000422817.1:n.157+98_157+100delinsT...
ENST00000511303.5:c.34-362_34-360delinsTCC	ENSP00000426104.1:n.34-362_34-360delinsTC...
ENST00000512526.1:c.5_7delinsTCC
ENST00000513821.5:c.161_163delinsTCC	ENSP00000426571.1:p.Val54=
ENST00000513942.5:n.104-362_104-360delinsTCC
ENST00000514934.1:c.*18+98_*18+100delinsTCC	ENSP00000423168.1:n.*18+98_*18+100delinsT...
NM_000023.2:c.161_163delinsTCC , LRG_203t1:c.161_163delinsTCC	NP_000014.1:p.Val54=
NM_001135697.1:c.161_163delinsTCC	NP_001129169.1:p.Val54=
XM_011525120.1:c.161_163delinsTCC	XP_011523422.1:p.Val54=
XM_011525121.1:c.161_163delinsTCC	XP_011523423.1:p.Val54=
XM_011525122.1:c.161_163delinsTCC	XP_011523424.1:p.Val54=
XM_011525123.1:c.161_163delinsTCC	XP_011523425.1:p.Val54=
XM_011525124.1:c.6+98_6+100delinsTCC	XP_011523426.1:n.6+98_6+100delinsTCC
XR_934517.1:n.227_229delinsTCC
NM_000023.3:c.161_163delinsTCC	NP_000014.1:p.Val54=
NM_001135697.2:c.161_163delinsTCC	NP_001129169.1:p.Val54=
NR_135553.1:n.217_219delinsTCC
XM_011525120.2:c.323_325delinsTCC	XP_011523422.2:p.Val108=
XM_011525121.2:c.323_325delinsTCC	XP_011523423.2:p.Val108=
XM_011525122.2:c.323_325delinsTCC	XP_011523424.2:p.Val108=
XM_011525123.2:c.323_325delinsTCC	XP_011523425.2:p.Val108=
XM_011525124.2:c.6+98_6+100delinsTCC	XP_011523426.1:n.6+98_6+100delinsTCC
XM_024450873.1:c.6+98_6+100delinsTCC	XP_024306641.1:n.6+98_6+100delinsTCC
XR_002958056.1:n.679_681delinsTCC
NM_000023.4:c.161_163delinsTCC MANE Select	NP_000014.1:p.Val54=
NM_001135697.3:c.161_163delinsTCC	NP_001129169.1:p.Val54=
NR_135553.2:n.197_199delinsTCC