Canonical Allele Identifier: CA2740091275
Community Standard Title: NM_000232.5(SGCB):c.433del (p.Val145PhefsTer11)
Gene: SGCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028918del , CM000666.2:g.52028918del GRCh38
NC_000004.11:g.52895084del , CM000666.1:g.52895084del GRCh37
NC_000004.10:g.52589841del NCBI36
NG_008891.1:g.14402del , LRG_204:g.14402del

Transcript Alleles

HGVS Amino-acid Change
NM_000232.5:c.433del MANE Select NP_000223.1:p.Val145PhefsTer11
ENST00000381431.10:c.433del MANE Select ENSP00000370839.6:p.Val145PhefsTer11
NM_000232.4:c.433del , LRG_204t1:c.433del NP_000223.1:p.Val145PhefsTer11
ENST00000381431.9:c.433del ENSP00000370839.5:p.Val145PhefsTer11
ENST00000506357.5:c.516del
ENST00000514133.1:c.510del ENSP00000425818.1:n.510del
XM_006714049.2:c.136del XP_006714112.1:p.Val46PhefsTer11
XM_011534403.1:c.223del XP_011532705.1:p.Val75PhefsTer11
XM_011534404.1:c.136del XP_011532706.1:p.Val46PhefsTer11