Canonical Allele Identifier: CA2695205312

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947224_138947243delinsGTG , CM000667.2:g.138947224_138947243delinsGTG	GRCh38
NC_000005.9:g.138282913_138282932delinsGTG , CM000667.1:g.138282913_138282932delinsGTG	GRCh37
NC_000005.8:g.138310812_138310831delinsGTG	NCBI36
NG_008112.1:g.256134_256153delinsCAC
NG_008112.2:g.256134_256153delinsCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1260_1279delinsCAC MANE Select	ENSP00000378294.2:p.Arg420SerfsTer3
ENST00000265195.9:c.1260_1279delinsCAC	ENSP00000265195.5:p.Arg420SerfsTer3
ENST00000394817.6:c.1260_1279delinsCAC	ENSP00000378294.2:p.Arg420SerfsTer3
ENST00000509534.5:c.1281_1300delinsCAC	ENSP00000426858.1:p.Arg427SerfsTer3
ENST00000515008.1:n.595_614delinsCAC
NM_001037633.1:c.1260_1279delinsCAC	NP_001032722.1:p.Arg420SerfsTer3
NM_022464.4:c.1260_1279delinsCAC	NP_071909.1:p.Arg420SerfsTer3
XM_011543570.1:c.1290_1309delinsCAC	XP_011541872.1:p.Arg430SerfsTer3
XM_011543570.2:c.1290_1309delinsCAC	XP_011541872.1:p.Arg430SerfsTer3
XM_024446164.1:c.1260_1279delinsCAC	XP_024301932.1:p.Arg420SerfsTer3
NM_022464.5:c.1260_1279delinsCAC MANE Select	NP_071909.1:p.Arg420SerfsTer3
NM_001037633.2:c.1260_1279delinsCAC	NP_001032722.1:p.Arg420SerfsTer3