Canonical Allele Identifier: CA2263905358

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167948_50167950delinsTCA , CM000679.2:g.50167948_50167950delinsTCA	GRCh38
NC_000017.10:g.48245309_48245311delinsTCA , CM000679.1:g.48245309_48245311delinsTCA	GRCh37
NC_000017.9:g.45600308_45600310delinsTCA	NCBI36
NG_008889.1:g.6944_6946delinsTCA , LRG_203:g.6944_6946delinsTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.314_316delinsTCA	ENSP00000422030.2:p.Val105=
ENST00000511303.6:n.39_41delinsTCA
ENST00000512526.2:c.305_307delinsTCA	ENSP00000426606.2:p.Val102=
ENST00000682109.1:c.194_196delinsTCA	ENSP00000508041.1:p.Val65=
ENST00000683226.1:n.24_26delinsTCA
ENST00000683294.1:c.314_316delinsTCA	ENSP00000508134.1:p.Val105=
ENST00000262018.8:c.314_316delinsTCA MANE Select	ENSP00000262018.3:p.Val105=
ENST00000262018.7:c.314_316delinsTCA	ENSP00000262018.3:p.Val105=
ENST00000344627.10:c.314_316delinsTCA	ENSP00000345522.6:p.Val105=
ENST00000502555.5:c.159_161delinsTCA	ENSP00000422817.1:p.Gly53=
ENST00000511303.5:c.35_37delinsTCA	ENSP00000426104.1:p.Val12=
ENST00000512526.1:c.149_151delinsTCA
ENST00000513821.5:c.314_316delinsTCA	ENSP00000426571.1:p.Val105=
ENST00000513942.5:n.105_107delinsTCA
ENST00000514934.1:c.*20_*22delinsTCA	ENSP00000423168.1:n.*20_*22delinsTCA
NM_000023.2:c.314_316delinsTCA , LRG_203t1:c.314_316delinsTCA	NP_000014.1:p.Val105=
NM_001135697.1:c.314_316delinsTCA	NP_001129169.1:p.Val105=
XM_011525120.1:c.314_316delinsTCA	XP_011523422.1:p.Val105=
XM_011525121.1:c.314_316delinsTCA	XP_011523423.1:p.Val105=
XM_011525122.1:c.314_316delinsTCA	XP_011523424.1:p.Val105=
XM_011525123.1:c.314_316delinsTCA	XP_011523425.1:p.Val105=
XM_011525124.1:c.8_10delinsTCA	XP_011523426.1:p.Val3=
XR_934517.1:n.380_382delinsTCA
NM_000023.3:c.314_316delinsTCA	NP_000014.1:p.Val105=
NM_001135697.2:c.314_316delinsTCA	NP_001129169.1:p.Val105=
NR_135553.1:n.370_372delinsTCA
XM_011525120.2:c.476_478delinsTCA	XP_011523422.2:p.Val159=
XM_011525121.2:c.476_478delinsTCA	XP_011523423.2:p.Val159=
XM_011525122.2:c.476_478delinsTCA	XP_011523424.2:p.Val159=
XM_011525123.2:c.476_478delinsTCA	XP_011523425.2:p.Val159=
XM_011525124.2:c.8_10delinsTCA	XP_011523426.1:p.Val3=
XM_024450873.1:c.8_10delinsTCA	XP_024306641.1:p.Val3=
XR_002958056.1:n.832_834delinsTCA
NM_000023.4:c.314_316delinsTCA MANE Select	NP_000014.1:p.Val105=
NM_001135697.3:c.314_316delinsTCA	NP_001129169.1:p.Val105=
NR_135553.2:n.350_352delinsTCA