Canonical Allele Identifier: CA10605092

Gene: SIL1

Linked Data

• ClinVar Variation Id: 285373
• ClinVar RCV Id: RCV000315950
• dbSNP Id: rs886043087
• gnomAD v2: 5-138282986-GC-G
• gnomAD v4: 5-138947297-GC-G
• MyVariant Identifiers: chr5:g.138282987del (hg19) ; chr5:g.138947298del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947300del , CM000667.2:g.138947300del	GRCh38
NC_000005.9:g.138282989del , CM000667.1:g.138282989del	GRCh37
NC_000005.8:g.138310888del	NCBI36
NG_008112.1:g.256079del
NG_008112.2:g.256079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1205del MANE Select	ENSP00000378294.2:p.Gly402AlafsTer4
ENST00000265195.9:c.1205del	ENSP00000265195.5:p.Gly402AlafsTer4
ENST00000394817.6:c.1205del	ENSP00000378294.2:p.Gly402AlafsTer4
ENST00000509534.5:c.1226del	ENSP00000426858.1:p.Gly409AlafsTer4
ENST00000515008.1:n.540del
NM_001037633.1:c.1205del	NP_001032722.1:p.Gly402AlafsTer4
NM_022464.4:c.1205del	NP_071909.1:p.Gly402AlafsTer4
XM_011543570.1:c.1235del	XP_011541872.1:p.Gly412AlafsTer4
XM_011543570.2:c.1235del	XP_011541872.1:p.Gly412AlafsTer4
XM_024446164.1:c.1205del	XP_024301932.1:p.Gly402AlafsTer4
NM_022464.5:c.1205del MANE Select	NP_071909.1:p.Gly402AlafsTer4
NM_001037633.2:c.1205del	NP_001032722.1:p.Gly402AlafsTer4