Canonical Allele Identifier: CA446793222

Gene: SIL1

Linked Data

• MyVariant Identifiers: chr5:g.138282859_138282860insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947170_138947171insC , CM000667.2:g.138947170_138947171insC	GRCh38
NC_000005.9:g.138282859_138282860insC , CM000667.1:g.138282859_138282860insC	GRCh37
NC_000005.8:g.138310758_138310759insC	NCBI36
NG_008112.1:g.256206_256207insG
NG_008112.2:g.256206_256207insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1332_1333insG MANE Select	ENSP00000378294.2:p.Tyr445ValfsTer30
ENST00000265195.9:c.1332_1333insG	ENSP00000265195.5:p.Tyr445ValfsTer30
ENST00000394817.6:c.1332_1333insG	ENSP00000378294.2:p.Tyr445ValfsTer30
ENST00000509534.5:c.1353_1354insG	ENSP00000426858.1:p.Tyr452ValfsTer30
ENST00000515008.1:n.667_668insG
NM_001037633.1:c.1332_1333insG	NP_001032722.1:p.Tyr445ValfsTer30
NM_022464.4:c.1332_1333insG	NP_071909.1:p.Tyr445ValfsTer30
XM_011543570.1:c.1362_1363insG	XP_011541872.1:p.Tyr455ValfsTer30
XM_011543570.2:c.1362_1363insG	XP_011541872.1:p.Tyr455ValfsTer30
XM_024446164.1:c.1332_1333insG	XP_024301932.1:p.Tyr445ValfsTer30
NM_022464.5:c.1332_1333insG MANE Select	NP_071909.1:p.Tyr445ValfsTer30
NM_001037633.2:c.1332_1333insG	NP_001032722.1:p.Tyr445ValfsTer30