Canonical Allele Identifier: CA2263905384

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167640_50167641delinsGC , CM000679.2:g.50167640_50167641delinsGC	GRCh38
NC_000017.10:g.48245001_48245002delinsGC , CM000679.1:g.48245001_48245002delinsGC	GRCh37
NC_000017.9:g.45600000_45600001delinsGC	NCBI36
NG_008889.1:g.6636_6637delinsGC , LRG_203:g.6636_6637delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.216_217delinsGC	ENSP00000422030.2:p.Leu72=
ENST00000511303.6:n.38-307_38-306delinsGC
ENST00000512526.2:c.216_217delinsGC	ENSP00000426606.2:p.Leu72=
ENST00000682109.1:c.96_97delinsGC	ENSP00000508041.1:p.Leu32=
ENST00000683294.1:c.216_217delinsGC	ENSP00000508134.1:p.Leu72=
ENST00000262018.8:c.216_217delinsGC MANE Select	ENSP00000262018.3:p.Leu72=
ENST00000262018.7:c.216_217delinsGC	ENSP00000262018.3:p.Leu72=
ENST00000344627.10:c.216_217delinsGC	ENSP00000345522.6:p.Leu72=
ENST00000502555.5:c.157+153_157+154delinsGC	ENSP00000422817.1:n.157+153_157+154delinsGC
ENST00000511303.5:c.34-307_34-306delinsGC	ENSP00000426104.1:n.34-307_34-306delinsGC
ENST00000512526.1:c.60_61delinsGC
ENST00000513821.5:c.216_217delinsGC	ENSP00000426571.1:p.Leu72=
ENST00000513942.5:n.104-307_104-306delinsGC
ENST00000514934.1:c.*18+153_*18+154delinsGC	ENSP00000423168.1:n.*18+153_*18+154delinsGC
NM_000023.2:c.216_217delinsGC , LRG_203t1:c.216_217delinsGC	NP_000014.1:p.Leu72=
NM_001135697.1:c.216_217delinsGC	NP_001129169.1:p.Leu72=
XM_011525120.1:c.216_217delinsGC	XP_011523422.1:p.Leu72=
XM_011525121.1:c.216_217delinsGC	XP_011523423.1:p.Leu72=
XM_011525122.1:c.216_217delinsGC	XP_011523424.1:p.Leu72=
XM_011525123.1:c.216_217delinsGC	XP_011523425.1:p.Leu72=
XM_011525124.1:c.6+153_6+154delinsGC	XP_011523426.1:n.6+153_6+154delinsGC
XR_934517.1:n.282_283delinsGC
NM_000023.3:c.216_217delinsGC	NP_000014.1:p.Leu72=
NM_001135697.2:c.216_217delinsGC	NP_001129169.1:p.Leu72=
NR_135553.1:n.272_273delinsGC
XM_011525120.2:c.378_379delinsGC	XP_011523422.2:p.Leu126=
XM_011525121.2:c.378_379delinsGC	XP_011523423.2:p.Leu126=
XM_011525122.2:c.378_379delinsGC	XP_011523424.2:p.Leu126=
XM_011525123.2:c.378_379delinsGC	XP_011523425.2:p.Leu126=
XM_011525124.2:c.6+153_6+154delinsGC	XP_011523426.1:n.6+153_6+154delinsGC
XM_024450873.1:c.6+153_6+154delinsGC	XP_024306641.1:n.6+153_6+154delinsGC
XR_002958056.1:n.734_735delinsGC
NM_000023.4:c.216_217delinsGC MANE Select	NP_000014.1:p.Leu72=
NM_001135697.3:c.216_217delinsGC	NP_001129169.1:p.Leu72=
NR_135553.2:n.252_253delinsGC