Canonical Allele Identifier: CA2695205313

Gene: SIL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947294_138947296delinsA , CM000667.2:g.138947294_138947296delinsA	GRCh38
NC_000005.9:g.138282983_138282985delinsA , CM000667.1:g.138282983_138282985delinsA	GRCh37
NC_000005.8:g.138310882_138310884delinsA	NCBI36
NG_008112.1:g.256081_256083delinsT
NG_008112.2:g.256081_256083delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1207_1209delinsT MANE Select	ENSP00000378294.2:p.Val403SerfsTer25
ENST00000265195.9:c.1207_1209delinsT	ENSP00000265195.5:p.Val403SerfsTer25
ENST00000394817.6:c.1207_1209delinsT	ENSP00000378294.2:p.Val403SerfsTer25
ENST00000509534.5:c.1228_1230delinsT	ENSP00000426858.1:p.Val410SerfsTer25
ENST00000515008.1:n.542_544delinsT
NM_001037633.1:c.1207_1209delinsT	NP_001032722.1:p.Val403SerfsTer25
NM_022464.4:c.1207_1209delinsT	NP_071909.1:p.Val403SerfsTer25
XM_011543570.1:c.1237_1239delinsT	XP_011541872.1:p.Val413SerfsTer25
XM_011543570.2:c.1237_1239delinsT	XP_011541872.1:p.Val413SerfsTer25
XM_024446164.1:c.1207_1209delinsT	XP_024301932.1:p.Val403SerfsTer25
NM_022464.5:c.1207_1209delinsT MANE Select	NP_071909.1:p.Val403SerfsTer25
NM_001037633.2:c.1207_1209delinsT	NP_001032722.1:p.Val403SerfsTer25