Canonical Allele Identifier: CA658798902

Gene: SGCA

Linked Data

• ClinVar Variation Id: 499945
• ClinVar RCV Id: RCV000595970 ; RCV000822006
• dbSNP Id: rs1555568788

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168471_50168472delinsCT , CM000679.2:g.50168471_50168472delinsCT	GRCh38
NC_000017.10:g.48245832_48245833delinsCT , CM000679.1:g.48245832_48245833delinsCT	GRCh37
NC_000017.9:g.45600831_45600832delinsCT	NCBI36
NG_008889.1:g.7467_7468delinsCT , LRG_203:g.7467_7468delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.483_484delinsCT	ENSP00000422030.2:p.Leu161_Gly162delinsPh...
ENST00000511303.6:n.208_209delinsCT
ENST00000512526.2:c.474_475delinsCT	ENSP00000426606.2:n.474_475delinsCT
ENST00000682109.1:c.363_364delinsCT	ENSP00000508041.1:p.Leu121_Gly122delinsPh...
ENST00000683226.1:n.193_194delinsCT
ENST00000683294.1:c.483_484delinsCT	ENSP00000508134.1:p.Leu161_Gly162delinsPh...
ENST00000262018.8:c.483_484delinsCT MANE Select	ENSP00000262018.3:p.Leu161_Gly162delinsPh...
ENST00000262018.7:c.483_484delinsCT	ENSP00000262018.3:p.Leu161_Gly162delinsPh...
ENST00000344627.10:c.483_484delinsCT	ENSP00000345522.6:p.Leu161_Gly162delinsPh...
ENST00000502555.5:c.*142_*143delinsCT	ENSP00000422817.1:n.*142_*143delinsCT
ENST00000511303.5:c.204_205delinsCT	ENSP00000426104.1:p.Leu68_Gly69delinsPheT...
ENST00000512526.1:c.318_319delinsCT
ENST00000513821.5:c.483_484delinsCT	ENSP00000426571.1:p.Leu161_Gly162delinsPh...
ENST00000513942.5:n.274_275delinsCT
ENST00000514934.1:c.*189_*190delinsCT	ENSP00000423168.1:n.*189_*190delinsCT
NM_000023.2:c.483_484delinsCT , LRG_203t1:c.483_484delinsCT	NP_000014.1:p.Leu161_Gly162delinsPheTrp
NM_001135697.1:c.483_484delinsCT	NP_001129169.1:p.Leu161_Gly162delinsPheTr...
XM_011525120.1:c.483_484delinsCT	XP_011523422.1:p.Leu161_Gly162delinsPheTr...
XM_011525121.1:c.483_484delinsCT	XP_011523423.1:p.Leu161_Gly162delinsPheTr...
XM_011525122.1:c.483_484delinsCT	XP_011523424.1:p.Leu161_Gly162delinsPheTr...
XM_011525123.1:c.483_484delinsCT	XP_011523425.1:p.Leu161_Gly162delinsPheTr...
XM_011525124.1:c.177_178delinsCT	XP_011523426.1:p.Leu59_Gly60delinsPheTrp
XR_934517.1:n.549_550delinsCT
NM_000023.3:c.483_484delinsCT	NP_000014.1:p.Leu161_Gly162delinsPheTrp
NM_001135697.2:c.483_484delinsCT	NP_001129169.1:p.Leu161_Gly162delinsPheTr...
NR_135553.1:n.539_540delinsCT
XM_011525120.2:c.645_646delinsCT	XP_011523422.2:p.Leu215_Gly216delinsPheTr...
XM_011525121.2:c.645_646delinsCT	XP_011523423.2:p.Leu215_Gly216delinsPheTr...
XM_011525122.2:c.645_646delinsCT	XP_011523424.2:p.Leu215_Gly216delinsPheTr...
XM_011525123.2:c.645_646delinsCT	XP_011523425.2:p.Leu215_Gly216delinsPheTr...
XM_011525124.2:c.177_178delinsCT	XP_011523426.1:p.Leu59_Gly60delinsPheTrp
XM_024450873.1:c.177_178delinsCT	XP_024306641.1:p.Leu59_Gly60delinsPheTrp
XR_002958056.1:n.1001_1002delinsCT
NM_000023.4:c.483_484delinsCT MANE Select	NP_000014.1:p.Leu161_Gly162delinsPheTrp
NM_001135697.3:c.483_484delinsCT	NP_001129169.1:p.Leu161_Gly162delinsPheTr...
NR_135553.2:n.519_520delinsCT