Canonical Allele Identifier: CA2999320842
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3590282dup , CM000678.2:g.3590282dup GRCh38
NC_000016.9:g.3640283dup , CM000678.1:g.3640283dup GRCh37
NC_000016.8:g.3580284dup NCBI36
NG_028123.1:g.26307dup , LRG_503:g.26307dup

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.3360dup MANE Select NP_115820.2:p.Ser1121IlefsTer5
ENST00000294008.4:c.3360dup MANE Select ENSP00000294008.3:p.Ser1121IlefsTer5
NM_032444.2:c.3360dup , LRG_503t1:c.3360dup NP_115820.2:p.Ser1121IlefsTer5
NM_032444.3:c.3360dup NP_115820.2:p.Ser1121IlefsTer5
ENST00000294008.3:c.3360dup ENSP00000294008.3:p.Ser1121IlefsTer5
XM_011522715.1:c.3360dup XP_011521017.1:p.Ser1121IlefsTer5
XM_011522715.3:c.3360dup XP_011521017.1:p.Ser1121IlefsTer5
XM_017023775.2:c.2538dup XP_016879264.1:p.Ser847IlefsTer5
XM_024450471.1:c.3360dup XP_024306239.1:p.Ser1121IlefsTer5