Canonical Allele Identifier: CA804574847

Gene: SIL1

Linked Data

• dbSNP Id: rs1406680812
• gnomAD v3: 5-138946961-TCTACACA-T
• gnomAD v4: 5-138946961-TCTACACA-T
• MyVariant Identifiers: chr5:g.138282651_138282657del (hg19) ; chr5:g.138946962_138946968del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946962_138946968del , CM000667.2:g.138946962_138946968del	GRCh38
NC_000005.9:g.138282651_138282657del , CM000667.1:g.138282651_138282657del	GRCh37
NC_000005.8:g.138310550_138310556del	NCBI36
NG_008112.1:g.256409_256415del
NG_008112.2:g.256409_256415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*149_*155del MANE Select	ENSP00000378294.2:n.*149_*155del
ENST00000265195.9:c.*149_*155del	ENSP00000265195.5:n.*149_*155del
ENST00000394817.6:c.*149_*155del	ENSP00000378294.2:n.*149_*155del
NM_001037633.1:c.*149_*155del	NP_001032722.1:n.*149_*155del
NM_022464.4:c.*149_*155del	NP_071909.1:n.*149_*155del
XM_011543570.2:c.*149_*155del	XP_011541872.1:n.*149_*155del
XM_024446164.1:c.*149_*155del	XP_024301932.1:n.*149_*155del
NM_022464.5:c.*149_*155del MANE Select	NP_071909.1:n.*149_*155del
NM_001037633.2:c.*149_*155del	NP_001032722.1:n.*149_*155del