Canonical Allele Identifier: CA2519483287
Gene: SIL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946810_138946815del , CM000667.2:g.138946810_138946815del GRCh38
NC_000005.9:g.138282499_138282504del , CM000667.1:g.138282499_138282504del GRCh37
NC_000005.8:g.138310398_138310403del NCBI36
NG_008112.1:g.256565_256570del
NG_008112.2:g.256565_256570del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*305_*310del MANE Select ENSP00000378294.2:n.*305_*310del
ENST00000265195.9:c.*305_*310del ENSP00000265195.5:n.*305_*310del
ENST00000394817.6:c.*305_*310del ENSP00000378294.2:n.*305_*310del
NM_001037633.1:c.*305_*310del NP_001032722.1:n.*305_*310del
NM_022464.4:c.*305_*310del NP_071909.1:n.*305_*310del
XM_011543570.2:c.*305_*310del XP_011541872.1:n.*305_*310del
XM_024446164.1:c.*305_*310del XP_024301932.1:n.*305_*310del
NM_022464.5:c.*305_*310del MANE Select NP_071909.1:n.*305_*310del
NM_001037633.2:c.*305_*310del NP_001032722.1:n.*305_*310del