Canonical Allele Identifier: CA2263905666

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168476_50168477delinsGA , CM000679.2:g.50168476_50168477delinsGA	GRCh38
NC_000017.10:g.48245837_48245838delinsGA , CM000679.1:g.48245837_48245838delinsGA	GRCh37
NC_000017.9:g.45600836_45600837delinsGA	NCBI36
NG_008889.1:g.7472_7473delinsGA , LRG_203:g.7472_7473delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.488_489delinsGA	ENSP00000422030.2:p.Gly163=
ENST00000511303.6:n.213_214delinsGA
ENST00000512526.2:c.479_480delinsGA	ENSP00000426606.2:n.479_480delinsGA
ENST00000682109.1:c.368_369delinsGA	ENSP00000508041.1:p.Gly123=
ENST00000683226.1:n.198_199delinsGA
ENST00000683294.1:c.488_489delinsGA	ENSP00000508134.1:p.Gly163=
ENST00000262018.8:c.488_489delinsGA MANE Select	ENSP00000262018.3:p.Gly163=
ENST00000262018.7:c.488_489delinsGA	ENSP00000262018.3:p.Gly163=
ENST00000344627.10:c.488_489delinsGA	ENSP00000345522.6:p.Gly163=
ENST00000502555.5:c.*147_*148delinsGA	ENSP00000422817.1:n.*147_*148delinsGA
ENST00000511303.5:c.209_210delinsGA	ENSP00000426104.1:p.Gly70=
ENST00000512526.1:c.323_324delinsGA
ENST00000513821.5:c.488_489delinsGA	ENSP00000426571.1:p.Gly163=
ENST00000513942.5:n.279_280delinsGA
ENST00000514934.1:c.*194_*195delinsGA	ENSP00000423168.1:n.*194_*195delinsGA
NM_000023.2:c.488_489delinsGA , LRG_203t1:c.488_489delinsGA	NP_000014.1:p.Gly163=
NM_001135697.1:c.488_489delinsGA	NP_001129169.1:p.Gly163=
XM_011525120.1:c.488_489delinsGA	XP_011523422.1:p.Gly163=
XM_011525121.1:c.488_489delinsGA	XP_011523423.1:p.Gly163=
XM_011525122.1:c.488_489delinsGA	XP_011523424.1:p.Gly163=
XM_011525123.1:c.488_489delinsGA	XP_011523425.1:p.Gly163=
XM_011525124.1:c.182_183delinsGA	XP_011523426.1:p.Gly61=
XR_934517.1:n.554_555delinsGA
NM_000023.3:c.488_489delinsGA	NP_000014.1:p.Gly163=
NM_001135697.2:c.488_489delinsGA	NP_001129169.1:p.Gly163=
NR_135553.1:n.544_545delinsGA
XM_011525120.2:c.650_651delinsGA	XP_011523422.2:p.Gly217=
XM_011525121.2:c.650_651delinsGA	XP_011523423.2:p.Gly217=
XM_011525122.2:c.650_651delinsGA	XP_011523424.2:p.Gly217=
XM_011525123.2:c.650_651delinsGA	XP_011523425.2:p.Gly217=
XM_011525124.2:c.182_183delinsGA	XP_011523426.1:p.Gly61=
XM_024450873.1:c.182_183delinsGA	XP_024306641.1:p.Gly61=
XR_002958056.1:n.1006_1007delinsGA
NM_000023.4:c.488_489delinsGA MANE Select	NP_000014.1:p.Gly163=
NM_001135697.3:c.488_489delinsGA	NP_001129169.1:p.Gly163=
NR_135553.2:n.524_525delinsGA