Canonical Allele Identifier: CA1417382256
Gene: SI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069176_165069178delinsCCT , CM000665.2:g.165069176_165069178delinsCCT GRCh38
NC_000003.11:g.164786964_164786966delinsCCT , CM000665.1:g.164786964_164786966delinsCCT GRCh37
NC_000003.10:g.166269658_166269660delinsCCT NCBI36
NG_017043.1:g.14318_14320delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.273_275delinsAGG MANE Select ENSP00000264382.3:p.Arg91=
ENST00000264382.7:c.273_275delinsAGG ENSP00000264382.3:p.Arg91=
ENST00000476593.1:c.*148_*150delinsAGG ENSP00000419450.1:n.*148_*150delinsAGG
NM_001041.3:c.273_275delinsAGG NP_001032.2:p.Arg91=
XM_011513078.1:c.174_176delinsAGG XP_011511380.1:p.Arg58=
XM_011513078.2:c.174_176delinsAGG XP_011511380.1:p.Arg58=
NM_001041.4:c.273_275delinsAGG MANE Select NP_001032.2:p.Arg91=