Canonical Allele Identifier: CA919190491

Gene: OASL

Linked Data

• dbSNP Id: rs952304915
• gnomAD v3: 12-121022764-TC-T
• gnomAD v4: 12-121022764-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121022770del , CM000674.2:g.121022770del	GRCh38
NC_000012.11:g.121460573del , CM000674.1:g.121460573del	GRCh37
NC_000012.10:g.119944956del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257570.10:c.1047+1225del MANE Select	ENSP00000257570.4:n.1047+1225del
ENST00000339275.10:c.*37+1225del	ENSP00000341125.5:n.*37+1225del
ENST00000620239.5:c.658-1707del	ENSP00000479512.1:n.658-1707del
ENST00000679655.1:c.1047+1225del	ENSP00000506490.1:n.1047+1225del
ENST00000680485.1:c.*279+1225del	ENSP00000506721.1:n.*279+1225del
ENST00000680620.1:c.1047+1225del	ENSP00000505685.1:n.1047+1225del
ENST00000680750.1:n.1591+1225del
ENST00000681005.1:n.653+1225del
ENST00000681590.1:c.*521+1225del	ENSP00000506074.1:n.*521+1225del
ENST00000257570.9:c.1047+1225del	ENSP00000257570.4:n.1047+1225del
ENST00000339275.9:c.*37+1225del	ENSP00000341125.5:n.*37+1225del
ENST00000620239.4:c.658-1707del	ENSP00000479512.1:n.658-1707del
NM_001261825.1:c.658-1707del	NP_001248754.1:n.658-1707del
NM_003733.3:c.1047+1225del	NP_003724.1:n.1047+1225del
NM_198213.2:c.*37+1225del	NP_937856.1:n.*37+1225del
XM_017020140.1:c.1047+1225del	XP_016875629.1:n.1047+1225del
XM_017020141.1:c.*37+1225del	XP_016875630.1:n.*37+1225del
NM_001261825.2:c.658-1707del	NP_001248754.1:n.658-1707del
NM_001395418.1:c.*37+1225del	NP_001382347.1:n.*37+1225del
NM_001395419.1:c.1047+1225del	NP_001382348.1:n.1047+1225del
NM_003733.4:c.1047+1225del MANE Select	NP_003724.1:n.1047+1225del
NM_198213.3:c.*37+1225del	NP_937856.1:n.*37+1225del