Canonical Allele Identifier: CA10622773

Gene: SIL1

Linked Data

• ClinVar Variation Id: 351072
• ClinVar RCV Id: RCV000282050
• dbSNP Id: rs886059976
• gnomAD v2: 5-138282737-AG-A
• gnomAD v3: 5-138947048-AG-A
• gnomAD v4: 5-138947048-AG-A
• MyVariant Identifiers: chr5:g.138282738del (hg19) ; chr5:g.138947049del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947049del , CM000667.2:g.138947049del	GRCh38
NC_000005.9:g.138282738del , CM000667.1:g.138282738del	GRCh37
NC_000005.8:g.138310637del	NCBI36
NG_008112.1:g.256328del
NG_008112.2:g.256328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*68del MANE Select	ENSP00000378294.2:n.*68del
ENST00000265195.9:c.*68del	ENSP00000265195.5:n.*68del
ENST00000394817.6:c.*68del	ENSP00000378294.2:n.*68del
ENST00000509534.5:c.*68del	ENSP00000426858.1:n.*68del
ENST00000515008.1:n.789del
NM_001037633.1:c.*68del	NP_001032722.1:n.*68del
NM_022464.4:c.*68del	NP_071909.1:n.*68del
XM_011543570.1:c.*68del	XP_011541872.1:n.*68del
XM_011543570.2:c.*68del	XP_011541872.1:n.*68del
XM_024446164.1:c.*68del	XP_024301932.1:n.*68del
NM_022464.5:c.*68del MANE Select	NP_071909.1:n.*68del
NM_001037633.2:c.*68del	NP_001032722.1:n.*68del