Canonical Allele Identifier: CA3432321

Gene: SIL1

Linked Data

• dbSNP Id: rs745831591
• ExAC: 5:138282835 C / CA
• gnomAD v2: 5-138282835-C-CA
• gnomAD v4: 5-138947146-C-CA
• MyVariant Identifiers: chr5:g.138282835_138282836insA (hg19) ; chr5:g.138947146_138947147insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947147dup , CM000667.2:g.138947147dup	GRCh38
NC_000005.9:g.138282836dup , CM000667.1:g.138282836dup	GRCh37
NC_000005.8:g.138310735dup	NCBI36
NG_008112.1:g.256230dup
NG_008112.2:g.256230dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1356dup MANE Select	ENSP00000378294.2:p.Val453CysfsTer22
ENST00000265195.9:c.1356dup	ENSP00000265195.5:p.Val453CysfsTer22
ENST00000394817.6:c.1356dup	ENSP00000378294.2:p.Val453CysfsTer22
ENST00000509534.5:c.1377dup	ENSP00000426858.1:p.Val460CysfsTer22
ENST00000515008.1:n.691dup
NM_001037633.1:c.1356dup	NP_001032722.1:p.Val453CysfsTer22
NM_022464.4:c.1356dup	NP_071909.1:p.Val453CysfsTer22
XM_011543570.1:c.1386dup	XP_011541872.1:p.Val463CysfsTer22
XM_011543570.2:c.1386dup	XP_011541872.1:p.Val463CysfsTer22
XM_024446164.1:c.1356dup	XP_024301932.1:p.Val453CysfsTer22
NM_022464.5:c.1356dup MANE Select	NP_071909.1:p.Val453CysfsTer22
NM_001037633.2:c.1356dup	NP_001032722.1:p.Val453CysfsTer22