Canonical Allele Identifier: CA2670598632
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52028024-A-ATT
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028025_52028026insTT , CM000666.2:g.52028025_52028026insTT GRCh38
NC_000004.11:g.52894191_52894192insTT , CM000666.1:g.52894191_52894192insTT GRCh37
NC_000004.10:g.52588948_52588949insTT NCBI36
NG_008891.1:g.15295_15296insAA , LRG_204:g.15295_15296insAA

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.696_697insAA MANE Select ENSP00000370839.6:p.Phe233AsnfsTer18
ENST00000381431.9:c.696_697insAA ENSP00000370839.5:p.Phe233AsnfsTer18
NM_000232.4:c.696_697insAA , LRG_204t1:c.696_697insAA NP_000223.1:p.Phe233AsnfsTer18
XM_006714049.2:c.399_400insAA XP_006714112.1:p.Phe134AsnfsTer18
XM_011534403.1:c.486_487insAA XP_011532705.1:p.Phe163AsnfsTer18
XM_011534404.1:c.399_400insAA XP_011532706.1:p.Phe134AsnfsTer18
NM_000232.5:c.696_697insAA MANE Select NP_000223.1:p.Phe233AsnfsTer18
Search 100 bp 5'
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