Canonical Allele Identifier: CA2499224707

Gene: SGCA

Linked Data

• ClinVar Variation Id: 1217321
• ClinVar RCV Id: RCV001582428
• dbSNP Id: rs2144493097

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167391_50167392insG , CM000679.2:g.50167391_50167392insG	GRCh38
NC_000017.10:g.48244752_48244753insG , CM000679.1:g.48244752_48244753insG	GRCh37
NC_000017.9:g.45599751_45599752insG	NCBI36
NG_008889.1:g.6387_6388insG , LRG_203:g.6387_6388insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.61_62insG	ENSP00000422030.2:p.Thr21SerfsTer23
ENST00000511303.6:n.38-556_38-555insG
ENST00000512526.2:c.61_62insG	ENSP00000426606.2:p.Thr21SerfsTer23
ENST00000682109.1:c.38-191_38-190insG	ENSP00000508041.1:n.38-191_38-190insG
ENST00000683294.1:c.61_62insG	ENSP00000508134.1:p.Thr21SerfsTer23
ENST00000262018.8:c.61_62insG MANE Select	ENSP00000262018.3:p.Thr21SerfsTer23
ENST00000262018.7:c.61_62insG	ENSP00000262018.3:p.Thr21SerfsTer23
ENST00000344627.10:c.61_62insG	ENSP00000345522.6:p.Thr21SerfsTer23
ENST00000502555.5:c.61_62insG	ENSP00000422817.1:p.Thr21SerfsTer23
ENST00000511303.5:c.34-556_34-555insG	ENSP00000426104.1:n.34-556_34-555insG
ENST00000513821.5:c.61_62insG	ENSP00000426571.1:p.Thr21SerfsTer23
ENST00000513942.5:n.104-556_104-555insG
ENST00000514934.1:c.120_121insG	ENSP00000423168.1:p.Pro41AlafsTer?
NM_000023.2:c.61_62insG , LRG_203t1:c.61_62insG	NP_000014.1:p.Thr21SerfsTer23
NM_001135697.1:c.61_62insG	NP_001129169.1:p.Thr21SerfsTer23
XM_011525120.1:c.61_62insG	XP_011523422.1:p.Thr21SerfsTer23
XM_011525121.1:c.61_62insG	XP_011523423.1:p.Thr21SerfsTer23
XM_011525122.1:c.61_62insG	XP_011523424.1:p.Thr21SerfsTer23
XM_011525123.1:c.61_62insG	XP_011523425.1:p.Thr21SerfsTer23
XM_011525124.1:c.-91_-90insG	XP_011523426.1:n.-91_-90insG
XR_934517.1:n.127_128insG
NM_000023.3:c.61_62insG	NP_000014.1:p.Thr21SerfsTer23
NM_001135697.2:c.61_62insG	NP_001129169.1:p.Thr21SerfsTer23
NR_135553.1:n.117_118insG
XM_011525120.2:c.223_224insG	XP_011523422.2:p.Thr75SerfsTer23
XM_011525121.2:c.223_224insG	XP_011523423.2:p.Thr75SerfsTer23
XM_011525122.2:c.223_224insG	XP_011523424.2:p.Thr75SerfsTer23
XM_011525123.2:c.223_224insG	XP_011523425.2:p.Thr75SerfsTer23
XM_011525124.2:c.-91_-90insG	XP_011523426.1:n.-91_-90insG
XM_024450873.1:c.-91_-90insG	XP_024306641.1:n.-91_-90insG
XR_002958056.1:n.579_580insG
NM_000023.4:c.61_62insG MANE Select	NP_000014.1:p.Thr21SerfsTer23
NM_001135697.3:c.61_62insG	NP_001129169.1:p.Thr21SerfsTer23
NR_135553.2:n.97_98insG