Canonical Allele Identifier: CA2918483

Gene: SGCB

Linked Data

• dbSNP Id: rs758670451
• ExAC: 4:52899568 TTAAAA / T
• gnomAD v2: 4-52899568-TTAAAA-T
• MyVariant Identifiers: chr4:g.52899569_52899573del (hg19) ; chr4:g.52033403_52033407del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033404_52033408del , CM000666.2:g.52033404_52033408del	GRCh38
NC_000004.11:g.52899570_52899574del , CM000666.1:g.52899570_52899574del	GRCh37
NC_000004.10:g.52594327_52594331del	NCBI36
NG_008891.1:g.9913_9917del , LRG_204:g.9913_9917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.243+24_243+28del MANE Select	ENSP00000370839.6:n.243+24_243+28del
ENST00000381431.9:c.243+24_243+28del	ENSP00000370839.5:n.243+24_243+28del
ENST00000506357.5:c.229+24_229+28del
ENST00000514133.1:c.210+24_210+28del	ENSP00000425818.1:n.210+24_210+28del
NM_000232.4:c.243+24_243+28del , LRG_204t1:c.243+24_243+28del	NP_000223.1:n.243+24_243+28del
XM_006714049.2:c.-165+24_-165+28del	XP_006714112.1:n.-165+24_-165+28del
XM_011534403.1:c.34-3544_34-3540del	XP_011532705.1:n.34-3544_34-3540del
XM_011534404.1:c.-142+24_-142+28del	XP_011532706.1:n.-142+24_-142+28del
NM_000232.5:c.243+24_243+28del MANE Select	NP_000223.1:n.243+24_243+28del