Canonical Allele Identifier: CA563498237

Gene: SIL1

Linked Data

• dbSNP Id: rs1255849351
• gnomAD v2: 5-138282816-TC-T
• gnomAD v4: 5-138947127-TC-T
• MyVariant Identifiers: chr5:g.138282817del (hg19) ; chr5:g.138947128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947129del , CM000667.2:g.138947129del	GRCh38
NC_000005.9:g.138282818del , CM000667.1:g.138282818del	GRCh37
NC_000005.8:g.138310717del	NCBI36
NG_008112.1:g.256249del
NG_008112.2:g.256249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1375del MANE Select	ENSP00000378294.2:p.Glu459SerfsTer2
ENST00000265195.9:c.1375del	ENSP00000265195.5:p.Glu459SerfsTer2
ENST00000394817.6:c.1375del	ENSP00000378294.2:p.Glu459SerfsTer2
ENST00000509534.5:c.1396del	ENSP00000426858.1:p.Glu466SerfsTer2
ENST00000515008.1:n.710del
NM_001037633.1:c.1375del	NP_001032722.1:p.Glu459SerfsTer2
NM_022464.4:c.1375del	NP_071909.1:p.Glu459SerfsTer2
XM_011543570.1:c.1405del	XP_011541872.1:p.Glu469SerfsTer2
XM_011543570.2:c.1405del	XP_011541872.1:p.Glu469SerfsTer2
XM_024446164.1:c.1375del	XP_024301932.1:p.Glu459SerfsTer2
NM_022464.5:c.1375del MANE Select	NP_071909.1:p.Glu459SerfsTer2
NM_001037633.2:c.1375del	NP_001032722.1:p.Glu459SerfsTer2