Canonical Allele Identifier: CA2670614108

Gene: SGCB

Linked Data

• gnomAD v4: 4-52033295-TAATAAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033296_52033302del , CM000666.2:g.52033296_52033302del	GRCh38
NC_000004.11:g.52899462_52899468del , CM000666.1:g.52899462_52899468del	GRCh37
NC_000004.10:g.52594219_52594225del	NCBI36
NG_008891.1:g.10018_10024del , LRG_204:g.10018_10024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.243+129_243+135del MANE Select	ENSP00000370839.6:n.243+129_243+135del
ENST00000381431.9:c.243+129_243+135del	ENSP00000370839.5:n.243+129_243+135del
ENST00000506357.5:c.229+129_229+135del
ENST00000514133.1:c.210+129_210+135del	ENSP00000425818.1:n.210+129_210+135del
NM_000232.4:c.243+129_243+135del , LRG_204t1:c.243+129_243+135del	NP_000223.1:n.243+129_243+135del
XM_006714049.2:c.-165+129_-165+135del	XP_006714112.1:n.-165+129_-165+135del
XM_011534403.1:c.34-3439_34-3433del	XP_011532705.1:n.34-3439_34-3433del
XM_011534404.1:c.-142+129_-142+135del	XP_011532706.1:n.-142+129_-142+135del
NM_000232.5:c.243+129_243+135del MANE Select	NP_000223.1:n.243+129_243+135del