Canonical Allele Identifier: CA2670614630
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52038251-T-TGCCGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038252_52038257dup , CM000666.2:g.52038252_52038257dup GRCh38
NC_000004.11:g.52904418_52904423dup , CM000666.1:g.52904418_52904423dup GRCh37
NC_000004.10:g.52599175_52599180dup NCBI36
NG_008891.1:g.5063_5068dup , LRG_204:g.5063_5068dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.3_8dup MANE Select ENSP00000370839.6:p.Ala3_Ala4insAlaAla
ENST00000381431.9:c.3_8dup ENSP00000370839.5:p.Ala3_Ala4insAlaAla
NM_000232.4:c.3_8dup , LRG_204t1:c.3_8dup NP_000223.1:p.Ala3_Ala4insAlaAla
XM_011534403.1:c.3_8dup XP_011532705.1:p.Ala3_Ala4insAlaAla
NM_000232.5:c.3_8dup MANE Select NP_000223.1:p.Ala3_Ala4insAlaAla
Search 100 bp 5'
Search 100 bp 3'