Canonical Allele Identifier: CA349666
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3590053_3590055del , CM000678.2:g.3590053_3590055del GRCh38
NC_000016.9:g.3640054_3640056del , CM000678.1:g.3640054_3640056del GRCh37
NC_000016.8:g.3580055_3580057del NCBI36
NG_028123.1:g.26530_26532del , LRG_503:g.26530_26532del

Transcript Alleles

HGVS Amino-acid Change
ENST00000294008.4:c.3583_3585del MANE Select ENSP00000294008.3:p.Ile1195del
ENST00000294008.3:c.3583_3585del ENSP00000294008.3:p.Ile1195del
NM_032444.2:c.3583_3585del , LRG_503t1:c.3583_3585del NP_115820.2:p.Ile1195del
XM_011522715.1:c.3583_3585del XP_011521017.1:p.Ile1195del
NM_032444.3:c.3583_3585del NP_115820.2:p.Ile1195del
XM_011522715.3:c.3583_3585del XP_011521017.1:p.Ile1195del
XM_017023775.2:c.2761_2763del XP_016879264.1:p.Ile921del
XM_024450471.1:c.3583_3585del XP_024306239.1:p.Ile1195del
NM_032444.4:c.3583_3585del MANE Select NP_115820.2:p.Ile1195del