Canonical Allele Identifier: CA2670614618
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52038239-C-CGCCGCCGCCGCT
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038246_52038257dup , CM000666.2:g.52038246_52038257dup GRCh38
NC_000004.11:g.52904412_52904423dup , CM000666.1:g.52904412_52904423dup GRCh37
NC_000004.10:g.52599169_52599180dup NCBI36
NG_008891.1:g.5069_5080dup , LRG_204:g.5069_5080dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.9_20dup MANE Select ENSP00000370839.6:p.Ala7_Ala8insAlaAlaAlaAla
ENST00000381431.9:c.9_20dup ENSP00000370839.5:p.Ala7_Ala8insAlaAlaAlaAla
NM_000232.4:c.9_20dup , LRG_204t1:c.9_20dup NP_000223.1:p.Ala7_Ala8insAlaAlaAlaAla
XM_011534403.1:c.9_20dup XP_011532705.1:p.Ala7_Ala8insAlaAlaAlaAla
NM_000232.5:c.9_20dup MANE Select NP_000223.1:p.Ala7_Ala8insAlaAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'