Canonical Allele Identifier: CA2675501271

Gene: SIL1

Linked Data

• gnomAD v4: 5-138946728-T-TCTAAATAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946728_138946729insCTAAATAA , CM000667.2:g.138946728_138946729insCTAAATAA	GRCh38
NC_000005.9:g.138282417_138282418insCTAAATAA , CM000667.1:g.138282417_138282418insCTAAATAA	GRCh37
NC_000005.8:g.138310316_138310317insCTAAATAA	NCBI36
NG_008112.1:g.256648_256649insTTATTTAG
NG_008112.2:g.256648_256649insTTATTTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*388_*389insTTATTTAG MANE Select	ENSP00000378294.2:n.*388_*389insTTATTTAG
ENST00000394817.6:c.*388_*389insTTATTTAG	ENSP00000378294.2:n.*388_*389insTTATTTAG
NM_001037633.1:c.*388_*389insTTATTTAG	NP_001032722.1:n.*388_*389insTTATTTAG
NM_022464.4:c.*388_*389insTTATTTAG	NP_071909.1:n.*388_*389insTTATTTAG
XM_011543570.2:c.*388_*389insTTATTTAG	XP_011541872.1:n.*388_*389insTTATTTAG
XM_024446164.1:c.*388_*389insTTATTTAG	XP_024301932.1:n.*388_*389insTTATTTAG
NM_022464.5:c.*388_*389insTTATTTAG MANE Select	NP_071909.1:n.*388_*389insTTATTTAG
NM_001037633.2:c.*388_*389insTTATTTAG	NP_001032722.1:n.*388_*389insTTATTTAG