Canonical Allele Identifier: CA344697

Gene: SGCD

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156594939del , CM000667.2:g.156594939del	GRCh38
NC_000005.9:g.156021949del , CM000667.1:g.156021949del	GRCh37
NC_000005.8:g.155954527del	NCBI36
NG_008693.2:g.729596del , LRG_205:g.729596del

Transcript Alleles

HGVS	Amino-acid Change
NM_000337.6:c.390del MANE Select	NP_000328.2:p.Ala131ProfsTer2
ENST00000337851.9:c.390del MANE Select	ENSP00000338343.4:p.Ala131ProfsTer2
NM_000337.5:c.390del , LRG_205t1:c.390del	NP_000328.2:p.Ala131ProfsTer2
NM_001128209.1:c.387del	NP_001121681.1:p.Ala130ProfsTer2
NM_001128209.2:c.387del	NP_001121681.1:p.Ala130ProfsTer2
NM_172244.2:c.390del	NP_758447.1:p.Ala131ProfsTer2
NM_172244.3:c.390del	NP_758447.1:p.Ala131ProfsTer2
ENST00000337851.8:c.390del	ENSP00000338343.4:p.Ala131ProfsTer2
ENST00000435422.7:c.387del	ENSP00000403003.2:p.Ala130ProfsTer2
ENST00000517913.5:c.390del	ENSP00000429378.1:p.Ala131ProfsTer2
XM_005265966.3:c.390del	XP_005266023.1:p.Ala131ProfsTer2
XM_005265966.5:c.390del	XP_005266023.1:p.Ala131ProfsTer2
XM_005265967.1:c.390del	XP_005266024.1:p.Ala131ProfsTer2
XM_005265967.2:c.390del	XP_005266024.1:p.Ala131ProfsTer2
XM_006714911.2:c.390del	XP_006714974.1:p.Ala131ProfsTer2
XM_011534621.1:c.387del	XP_011532923.1:p.Ala130ProfsTer2
XM_011534621.2:c.387del	XP_011532923.1:p.Ala130ProfsTer2
XM_017009723.2:c.390del	XP_016865212.1:p.Ala131ProfsTer2
XM_017009724.1:c.390del	XP_016865213.1:p.Ala131ProfsTer2