Canonical Allele Identifier: CA2675501313

Gene: SIL1

Linked Data

• gnomAD v4: 5-138946742-T-TCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946742_138946743insCA , CM000667.2:g.138946742_138946743insCA	GRCh38
NC_000005.9:g.138282431_138282432insCA , CM000667.1:g.138282431_138282432insCA	GRCh37
NC_000005.8:g.138310330_138310331insCA	NCBI36
NG_008112.1:g.256634_256635insTG
NG_008112.2:g.256634_256635insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*374_*375insTG MANE Select	ENSP00000378294.2:n.*374_*375insTG
ENST00000394817.6:c.*374_*375insTG	ENSP00000378294.2:n.*374_*375insTG
NM_001037633.1:c.*374_*375insTG	NP_001032722.1:n.*374_*375insTG
NM_022464.4:c.*374_*375insTG	NP_071909.1:n.*374_*375insTG
XM_011543570.2:c.*374_*375insTG	XP_011541872.1:n.*374_*375insTG
XM_024446164.1:c.*374_*375insTG	XP_024301932.1:n.*374_*375insTG
NM_022464.5:c.*374_*375insTG MANE Select	NP_071909.1:n.*374_*375insTG
NM_001037633.2:c.*374_*375insTG	NP_001032722.1:n.*374_*375insTG