Canonical Allele Identifier: CA2263905319

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167584_50167585delinsGT , CM000679.2:g.50167584_50167585delinsGT	GRCh38
NC_000017.10:g.48244945_48244946delinsGT , CM000679.1:g.48244945_48244946delinsGT	GRCh37
NC_000017.9:g.45599944_45599945delinsGT	NCBI36
NG_008889.1:g.6580_6581delinsGT , LRG_203:g.6580_6581delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.160_161delinsGT	ENSP00000422030.2:p.Val54=
ENST00000511303.6:n.38-363_38-362delinsGT
ENST00000512526.2:c.160_161delinsGT	ENSP00000426606.2:p.Val54=
ENST00000682109.1:c.40_41delinsGT	ENSP00000508041.1:p.Val14=
ENST00000683294.1:c.160_161delinsGT	ENSP00000508134.1:p.Val54=
ENST00000262018.8:c.160_161delinsGT MANE Select	ENSP00000262018.3:p.Val54=
ENST00000262018.7:c.160_161delinsGT	ENSP00000262018.3:p.Val54=
ENST00000344627.10:c.160_161delinsGT	ENSP00000345522.6:p.Val54=
ENST00000502555.5:c.157+97_157+98delinsGT	ENSP00000422817.1:n.157+97_157+98delinsGT...
ENST00000511303.5:c.34-363_34-362delinsGT	ENSP00000426104.1:n.34-363_34-362delinsGT...
ENST00000512526.1:c.4_5delinsGT
ENST00000513821.5:c.160_161delinsGT	ENSP00000426571.1:p.Val54=
ENST00000513942.5:n.104-363_104-362delinsGT
ENST00000514934.1:c.*18+97_*18+98delinsGT	ENSP00000423168.1:n.*18+97_*18+98delinsGT...
NM_000023.2:c.160_161delinsGT , LRG_203t1:c.160_161delinsGT	NP_000014.1:p.Val54=
NM_001135697.1:c.160_161delinsGT	NP_001129169.1:p.Val54=
XM_011525120.1:c.160_161delinsGT	XP_011523422.1:p.Val54=
XM_011525121.1:c.160_161delinsGT	XP_011523423.1:p.Val54=
XM_011525122.1:c.160_161delinsGT	XP_011523424.1:p.Val54=
XM_011525123.1:c.160_161delinsGT	XP_011523425.1:p.Val54=
XM_011525124.1:c.6+97_6+98delinsGT	XP_011523426.1:n.6+97_6+98delinsGT
XR_934517.1:n.226_227delinsGT
NM_000023.3:c.160_161delinsGT	NP_000014.1:p.Val54=
NM_001135697.2:c.160_161delinsGT	NP_001129169.1:p.Val54=
NR_135553.1:n.216_217delinsGT
XM_011525120.2:c.322_323delinsGT	XP_011523422.2:p.Val108=
XM_011525121.2:c.322_323delinsGT	XP_011523423.2:p.Val108=
XM_011525122.2:c.322_323delinsGT	XP_011523424.2:p.Val108=
XM_011525123.2:c.322_323delinsGT	XP_011523425.2:p.Val108=
XM_011525124.2:c.6+97_6+98delinsGT	XP_011523426.1:n.6+97_6+98delinsGT
XM_024450873.1:c.6+97_6+98delinsGT	XP_024306641.1:n.6+97_6+98delinsGT
XR_002958056.1:n.678_679delinsGT
NM_000023.4:c.160_161delinsGT MANE Select	NP_000014.1:p.Val54=
NM_001135697.3:c.160_161delinsGT	NP_001129169.1:p.Val54=
NR_135553.2:n.196_197delinsGT