Canonical Allele Identifier: CA804574910

Gene: SIL1

Linked Data

• dbSNP Id: rs1370166185
• gnomAD v3: 5-138947056-AC-A
• gnomAD v4: 5-138947056-AC-A
• MyVariant Identifiers: chr5:g.138282746del (hg19) ; chr5:g.138947057del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947059del , CM000667.2:g.138947059del	GRCh38
NC_000005.9:g.138282748del , CM000667.1:g.138282748del	GRCh37
NC_000005.8:g.138310647del	NCBI36
NG_008112.1:g.256320del
NG_008112.2:g.256320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*60del MANE Select	ENSP00000378294.2:n.*60del
ENST00000265195.9:c.*60del	ENSP00000265195.5:n.*60del
ENST00000394817.6:c.*60del	ENSP00000378294.2:n.*60del
ENST00000509534.5:c.*60del	ENSP00000426858.1:n.*60del
ENST00000515008.1:n.781del
NM_001037633.1:c.*60del	NP_001032722.1:n.*60del
NM_022464.4:c.*60del	NP_071909.1:n.*60del
XM_011543570.1:c.*60del	XP_011541872.1:n.*60del
XM_011543570.2:c.*60del	XP_011541872.1:n.*60del
XM_024446164.1:c.*60del	XP_024301932.1:n.*60del
NM_022464.5:c.*60del MANE Select	NP_071909.1:n.*60del
NM_001037633.2:c.*60del	NP_001032722.1:n.*60del