Canonical Allele Identifier: CA2676178499

Gene: SGCD

Linked Data

• ClinVar Variation Id: 2760849
• ClinVar RCV Id: RCV003510145
• gnomAD v4: 5-156594957-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156594963dup , CM000667.2:g.156594963dup	GRCh38
NC_000005.9:g.156021973dup , CM000667.1:g.156021973dup	GRCh37
NC_000005.8:g.155954551dup	NCBI36
NG_008693.2:g.729620dup , LRG_205:g.729620dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.414dup MANE Select	ENSP00000338343.4:p.Phe139IlefsTer2
ENST00000337851.8:c.414dup	ENSP00000338343.4:p.Phe139IlefsTer2
ENST00000435422.7:c.411dup	ENSP00000403003.2:p.Phe138IlefsTer2
ENST00000517913.5:c.414dup	ENSP00000429378.1:p.Phe139IlefsTer2
NM_000337.5:c.414dup , LRG_205t1:c.414dup	NP_000328.2:p.Phe139IlefsTer2
NM_001128209.1:c.411dup	NP_001121681.1:p.Phe138IlefsTer2
NM_172244.2:c.414dup	NP_758447.1:p.Phe139IlefsTer2
XM_005265966.3:c.414dup	XP_005266023.1:p.Phe139IlefsTer2
XM_005265967.1:c.414dup	XP_005266024.1:p.Phe139IlefsTer2
XM_006714911.2:c.414dup	XP_006714974.1:p.Phe139IlefsTer2
XM_011534621.1:c.411dup	XP_011532923.1:p.Phe138IlefsTer2
XM_005265966.5:c.414dup	XP_005266023.1:p.Phe139IlefsTer2
XM_005265967.2:c.414dup	XP_005266024.1:p.Phe139IlefsTer2
XM_011534621.2:c.411dup	XP_011532923.1:p.Phe138IlefsTer2
XM_017009723.2:c.414dup	XP_016865212.1:p.Phe139IlefsTer2
XM_017009724.1:c.414dup	XP_016865213.1:p.Phe139IlefsTer2
NM_001128209.2:c.411dup	NP_001121681.1:p.Phe138IlefsTer2
NM_172244.3:c.414dup	NP_758447.1:p.Phe139IlefsTer2
NM_000337.6:c.414dup MANE Select	NP_000328.2:p.Phe139IlefsTer2