Canonical Allele Identifier: CA16040955

Gene: SGCB

Linked Data

• ClinVar Variation Id: 370264
• ClinVar RCV Id: RCV000412246
• dbSNP Id: rs1057516360
• MyVariant Identifiers: chr4:g.52899621_52899624del (hg19) ; chr4:g.52033455_52033458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033457_52033460del , CM000666.2:g.52033457_52033460del	GRCh38
NC_000004.11:g.52899623_52899626del , CM000666.1:g.52899623_52899626del	GRCh37
NC_000004.10:g.52594380_52594383del	NCBI36
NG_008891.1:g.9862_9865del , LRG_204:g.9862_9865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.216_219del MANE Select	ENSP00000370839.6:p.Phe73SerfsTer7
ENST00000381431.9:c.216_219del	ENSP00000370839.5:p.Phe73SerfsTer7
ENST00000506357.5:c.202_205del
ENST00000514133.1:c.183_186del	ENSP00000425818.1:p.Phe62SerfsTer7
NM_000232.4:c.216_219del , LRG_204t1:c.216_219del	NP_000223.1:p.Phe73SerfsTer7
XM_006714049.2:c.-192_-189del	XP_006714112.1:n.-192_-189del
XM_011534403.1:c.34-3595_34-3592del	XP_011532705.1:n.34-3595_34-3592del
XM_011534404.1:c.-169_-166del	XP_011532706.1:n.-169_-166del
NM_000232.5:c.216_219del MANE Select	NP_000223.1:p.Phe73SerfsTer7