Canonical Allele Identifier: CA10604820

Gene: SGCB

Linked Data

• ClinVar Variation Id: 284504
• ClinVar RCV Id: RCV000261513
• dbSNP Id: rs886042890
• MyVariant Identifiers: chr4:g.52899630_52899641del (hg19) ; chr4:g.52033464_52033475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033467_52033478del , CM000666.2:g.52033467_52033478del	GRCh38
NC_000004.11:g.52899633_52899644del , CM000666.1:g.52899633_52899644del	GRCh37
NC_000004.10:g.52594390_52594401del	NCBI36
NG_008891.1:g.9845_9856del , LRG_204:g.9845_9856del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.199_210del MANE Select	ENSP00000370839.6:p.Cys67_Ile70del
ENST00000381431.9:c.199_210del	ENSP00000370839.5:p.Cys67_Ile70del
ENST00000506357.5:c.185_196del
ENST00000514133.1:c.166_177del	ENSP00000425818.1:p.Cys56_Ile59del
NM_000232.4:c.199_210del , LRG_204t1:c.199_210del	NP_000223.1:p.Cys67_Ile70del
XM_006714049.2:c.-209_-198del	XP_006714112.1:n.-209_-198del
XM_011534403.1:c.34-3612_34-3601del	XP_011532705.1:n.34-3612_34-3601del
XM_011534404.1:c.-186_-175del	XP_011532706.1:n.-186_-175del
NM_000232.5:c.199_210del MANE Select	NP_000223.1:p.Cys67_Ile70del