Canonical Allele Identifier: CA128235966
Gene: SIL1 HGNC NCBI

Linked Data

dbSNP Id: rs560750312
gnomAD v2: 5-138282487-AG-A
gnomAD v3: 5-138946798-AG-A
gnomAD v4: 5-138946798-AG-A
MyVariant Identifiers: chr5:g.138282488del (hg19) chr5:g.138946799del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946800del , CM000667.2:g.138946800del GRCh38
NC_000005.9:g.138282489del , CM000667.1:g.138282489del GRCh37
NC_000005.8:g.138310388del NCBI36
NG_008112.1:g.256578del
NG_008112.2:g.256578del

Transcript Alleles

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