Canonical Allele Identifier: CA1586100041
Gene: SIL1 HGNC NCBI

Linked Data

dbSNP Id: rs1766638485

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946830_138946831del , CM000667.2:g.138946830_138946831del GRCh38
NC_000005.9:g.138282519_138282520del , CM000667.1:g.138282519_138282520del GRCh37
NC_000005.8:g.138310418_138310419del NCBI36
NG_008112.1:g.256549_256550del
NG_008112.2:g.256549_256550del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*289_*290del MANE Select ENSP00000378294.2:n.*289_*290del
ENST00000265195.9:c.*289_*290del ENSP00000265195.5:n.*289_*290del
ENST00000394817.6:c.*289_*290del ENSP00000378294.2:n.*289_*290del
NM_001037633.1:c.*289_*290del NP_001032722.1:n.*289_*290del
NM_022464.4:c.*289_*290del NP_071909.1:n.*289_*290del
XM_011543570.2:c.*289_*290del XP_011541872.1:n.*289_*290del
XM_024446164.1:c.*289_*290del XP_024301932.1:n.*289_*290del
NM_022464.5:c.*289_*290del MANE Select NP_071909.1:n.*289_*290del
NM_001037633.2:c.*289_*290del NP_001032722.1:n.*289_*290del