Canonical Allele Identifier: CA2607853278
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52033458-CA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033460del , CM000666.2:g.52033460del GRCh38
NC_000004.11:g.52899626del , CM000666.1:g.52899626del GRCh37
NC_000004.10:g.52594383del NCBI36
NG_008891.1:g.9861del , LRG_204:g.9861del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.215del MANE Select ENSP00000370839.6:p.Leu72CysfsTer9
ENST00000381431.9:c.215del ENSP00000370839.5:p.Leu72CysfsTer9
ENST00000506357.5:c.201del
ENST00000514133.1:c.182del ENSP00000425818.1:p.Leu61CysfsTer9
NM_000232.4:c.215del , LRG_204t1:c.215del NP_000223.1:p.Leu72CysfsTer9
XM_006714049.2:c.-193del XP_006714112.1:n.-193del
XM_011534403.1:c.34-3596del XP_011532705.1:n.34-3596del
XM_011534404.1:c.-170del XP_011532706.1:n.-170del
NM_000232.5:c.215del MANE Select NP_000223.1:p.Leu72CysfsTer9
Search 100 bp 5'
Search 100 bp 3'