Canonical Allele Identifier: CA1082073213

Gene: SIL1

Linked Data

• dbSNP Id: rs1766646395
• gnomAD v3: 5-138947113-G-GGC
• gnomAD v4: 5-138947113-G-GGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947114_138947115dup , CM000667.2:g.138947114_138947115dup	GRCh38
NC_000005.9:g.138282803_138282804dup , CM000667.1:g.138282803_138282804dup	GRCh37
NC_000005.8:g.138310702_138310703dup	NCBI36
NG_008112.1:g.256262_256263dup
NG_008112.2:g.256262_256263dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*2_*3dup MANE Select	ENSP00000378294.2:n.*2_*3dup
ENST00000265195.9:c.*2_*3dup	ENSP00000265195.5:n.*2_*3dup
ENST00000394817.6:c.*2_*3dup	ENSP00000378294.2:n.*2_*3dup
ENST00000509534.5:c.*2_*3dup	ENSP00000426858.1:n.*2_*3dup
ENST00000515008.1:n.723_724dup
NM_001037633.1:c.*2_*3dup	NP_001032722.1:n.*2_*3dup
NM_022464.4:c.*2_*3dup	NP_071909.1:n.*2_*3dup
XM_011543570.1:c.*2_*3dup	XP_011541872.1:n.*2_*3dup
XM_011543570.2:c.*2_*3dup	XP_011541872.1:n.*2_*3dup
XM_024446164.1:c.*2_*3dup	XP_024301932.1:n.*2_*3dup
NM_022464.5:c.*2_*3dup MANE Select	NP_071909.1:n.*2_*3dup
NM_001037633.2:c.*2_*3dup	NP_001032722.1:n.*2_*3dup