Canonical Allele Identifier: CA2668425531
Gene: SI HGNC NCBI

Linked Data

gnomAD v4: 3-165069012-A-AT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069016dup , CM000665.2:g.165069016dup GRCh38
NC_000003.11:g.164786804dup , CM000665.1:g.164786804dup GRCh37
NC_000003.10:g.166269498dup NCBI36
NG_017043.1:g.14483dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.373+65dup MANE Select ENSP00000264382.3:n.373+65dup
ENST00000264382.7:c.373+65dup ENSP00000264382.3:n.373+65dup
ENST00000476593.1:c.*248+65dup ENSP00000419450.1:n.*248+65dup
NM_001041.3:c.373+65dup NP_001032.2:n.373+65dup
XM_011513078.1:c.274+65dup XP_011511380.1:n.274+65dup
XM_011513078.2:c.274+65dup XP_011511380.1:n.274+65dup
NM_001041.4:c.373+65dup MANE Select NP_001032.2:n.373+65dup
Search 100 bp 5'
Search 100 bp 3'