Canonical Allele Identifier: CA1586100023
Gene: SIL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946798_138946799delinsAG , CM000667.2:g.138946798_138946799delinsAG GRCh38
NC_000005.9:g.138282487_138282488delinsAG , CM000667.1:g.138282487_138282488delinsAG GRCh37
NC_000005.8:g.138310386_138310387delinsAG NCBI36
NG_008112.1:g.256578_256579delinsCT
NG_008112.2:g.256578_256579delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*318_*319delinsCT MANE Select ENSP00000378294.2:n.*318_*319delinsCT
ENST00000265195.9:c.*318_*319delinsCT ENSP00000265195.5:n.*318_*319delinsCT
ENST00000394817.6:c.*318_*319delinsCT ENSP00000378294.2:n.*318_*319delinsCT
NM_001037633.1:c.*318_*319delinsCT NP_001032722.1:n.*318_*319delinsCT
NM_022464.4:c.*318_*319delinsCT NP_071909.1:n.*318_*319delinsCT
XM_011543570.2:c.*318_*319delinsCT XP_011541872.1:n.*318_*319delinsCT
XM_024446164.1:c.*318_*319delinsCT XP_024301932.1:n.*318_*319delinsCT
NM_022464.5:c.*318_*319delinsCT MANE Select NP_071909.1:n.*318_*319delinsCT
NM_001037633.2:c.*318_*319delinsCT NP_001032722.1:n.*318_*319delinsCT