Canonical Allele Identifier: CA563299869
Gene: SIL1 HGNC NCBI

Linked Data

dbSNP Id: rs1440722840
gnomAD v2: 5-138282534-GGCCCAGGTTCCT-G
gnomAD v3: 5-138946845-GGCCCAGGTTCCT-G
gnomAD v4: 5-138946845-GGCCCAGGTTCCT-G
MyVariant Identifiers: chr5:g.138282535_138282546del (hg19) chr5:g.138946846_138946857del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946850_138946861del , CM000667.2:g.138946850_138946861del GRCh38
NC_000005.9:g.138282539_138282550del , CM000667.1:g.138282539_138282550del GRCh37
NC_000005.8:g.138310438_138310449del NCBI36
NG_008112.1:g.256520_256531del
NG_008112.2:g.256520_256531del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*260_*271del MANE Select ENSP00000378294.2:n.*260_*271del
ENST00000265195.9:c.*260_*271del ENSP00000265195.5:n.*260_*271del
ENST00000394817.6:c.*260_*271del ENSP00000378294.2:n.*260_*271del
NM_001037633.1:c.*260_*271del NP_001032722.1:n.*260_*271del
NM_022464.4:c.*260_*271del NP_071909.1:n.*260_*271del
XM_011543570.2:c.*260_*271del XP_011541872.1:n.*260_*271del
XM_024446164.1:c.*260_*271del XP_024301932.1:n.*260_*271del
NM_022464.5:c.*260_*271del MANE Select NP_071909.1:n.*260_*271del
NM_001037633.2:c.*260_*271del NP_001032722.1:n.*260_*271del
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