Canonical Allele Identifier: CA1586100189
Gene: SIL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138947127_138947128delinsTC , CM000667.2:g.138947127_138947128delinsTC GRCh38
NC_000005.9:g.138282816_138282817delinsTC , CM000667.1:g.138282816_138282817delinsTC GRCh37
NC_000005.8:g.138310715_138310716delinsTC NCBI36
NG_008112.1:g.256249_256250delinsGA
NG_008112.2:g.256249_256250delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.1375_1376delinsGA MANE Select ENSP00000378294.2:p.Glu459=
ENST00000265195.9:c.1375_1376delinsGA ENSP00000265195.5:p.Glu459=
ENST00000394817.6:c.1375_1376delinsGA ENSP00000378294.2:p.Glu459=
ENST00000509534.5:c.1396_1397delinsGA ENSP00000426858.1:p.Glu466=
ENST00000515008.1:n.710_711delinsGA
NM_001037633.1:c.1375_1376delinsGA NP_001032722.1:p.Glu459=
NM_022464.4:c.1375_1376delinsGA NP_071909.1:p.Glu459=
XM_011543570.1:c.1405_1406delinsGA XP_011541872.1:p.Glu469=
XM_011543570.2:c.1405_1406delinsGA XP_011541872.1:p.Glu469=
XM_024446164.1:c.1375_1376delinsGA XP_024301932.1:p.Glu459=
NM_022464.5:c.1375_1376delinsGA MANE Select NP_071909.1:p.Glu459=
NM_001037633.2:c.1375_1376delinsGA NP_001032722.1:p.Glu459=