Canonical Allele Identifier: CA2668425552
Gene: SI HGNC NCBI

Linked Data

gnomAD v4: 3-165069144-TAA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069145_165069146del , CM000665.2:g.165069145_165069146del GRCh38
NC_000003.11:g.164786933_164786934del , CM000665.1:g.164786933_164786934del GRCh37
NC_000003.10:g.166269627_166269628del NCBI36
NG_017043.1:g.14350_14351del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.305_306del MANE Select ENSP00000264382.3:p.Leu102HisfsTer8
ENST00000264382.7:c.305_306del ENSP00000264382.3:p.Leu102HisfsTer8
ENST00000476593.1:c.*180_*181del ENSP00000419450.1:n.*180_*181del
NM_001041.3:c.305_306del NP_001032.2:p.Leu102HisfsTer8
XM_011513078.1:c.206_207del XP_011511380.1:p.Leu69HisfsTer8
XM_011513078.2:c.206_207del XP_011511380.1:p.Leu69HisfsTer8
NM_001041.4:c.305_306del MANE Select NP_001032.2:p.Leu102HisfsTer8
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