Canonical Allele Identifier: CA2675501690

Gene: SIL1

Linked Data

• gnomAD v4: 5-138947222-AGCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138947225_138947228del , CM000667.2:g.138947225_138947228del	GRCh38
NC_000005.9:g.138282914_138282917del , CM000667.1:g.138282914_138282917del	GRCh37
NC_000005.8:g.138310813_138310816del	NCBI36
NG_008112.1:g.256151_256154del
NG_008112.2:g.256151_256154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.1277_1280del MANE Select	ENSP00000378294.2:p.Gln426LeufsTer?
ENST00000265195.9:c.1277_1280del	ENSP00000265195.5:p.Gln426LeufsTer?
ENST00000394817.6:c.1277_1280del	ENSP00000378294.2:p.Gln426LeufsTer?
ENST00000509534.5:c.1298_1301del	ENSP00000426858.1:p.Gln433LeufsTer?
ENST00000515008.1:n.612_615del
NM_001037633.1:c.1277_1280del	NP_001032722.1:p.Gln426LeufsTer?
NM_022464.4:c.1277_1280del	NP_071909.1:p.Gln426LeufsTer?
XM_011543570.1:c.1307_1310del	XP_011541872.1:p.Gln436LeufsTer?
XM_011543570.2:c.1307_1310del	XP_011541872.1:p.Gln436LeufsTer?
XM_024446164.1:c.1277_1280del	XP_024301932.1:p.Gln426LeufsTer?
NM_022464.5:c.1277_1280del MANE Select	NP_071909.1:p.Gln426LeufsTer?
NM_001037633.2:c.1277_1280del	NP_001032722.1:p.Gln426LeufsTer?