Canonical Allele Identifier: CA2670599139
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52029680-G-GTGGCAA
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029680_52029681insTGGCAA , CM000666.2:g.52029680_52029681insTGGCAA GRCh38
NC_000004.11:g.52895846_52895847insTGGCAA , CM000666.1:g.52895846_52895847insTGGCAA GRCh37
NC_000004.10:g.52590603_52590604insTGGCAA NCBI36
NG_008891.1:g.13639_13640insTTGCCA , LRG_204:g.13639_13640insTTGCCA

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.426_427insTTGCCA MANE Select ENSP00000370839.6:p.Gln142_Pro143insLeuPr...
ENST00000381431.9:c.426_427insTTGCCA ENSP00000370839.5:p.Gln142_Pro143insLeuPr...
ENST00000506357.5:c.509_510insTTGCCA
ENST00000514133.1:c.503_504insTTGCCA ENSP00000425818.1:n.503_504insTTGCCA
NM_000232.4:c.426_427insTTGCCA , LRG_204t1:c.426_427insTTGCCA NP_000223.1:p.Gln142_Pro143insLeuPro
XM_006714049.2:c.129_130insTTGCCA XP_006714112.1:p.Gln43_Pro44insLeuPro
XM_011534403.1:c.216_217insTTGCCA XP_011532705.1:p.Gln72_Pro73insLeuPro
XM_011534404.1:c.129_130insTTGCCA XP_011532706.1:p.Gln43_Pro44insLeuPro
NM_000232.5:c.426_427insTTGCCA MANE Select NP_000223.1:p.Gln142_Pro143insLeuPro
Search 100 bp 5'
Search 100 bp 3'