Canonical Allele Identifier: CA2580083196

Gene: RDX

Linked Data

• ClinVar Variation Id: 2418984
• ClinVar RCV Id: RCV003112228

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.110258172_110258175del , CM000673.2:g.110258172_110258175del	GRCh38
NC_000011.9:g.110128897_110128900del , CM000673.1:g.110128897_110128900del	GRCh37
NC_000011.8:g.109634107_109634110del	NCBI36
NG_023044.1:g.43540_43543del
NG_023044.2:g.43540_43543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642511.1:c.442_445del
ENST00000645495.2:c.484_487del MANE Select	ENSP00000496503.2:p.Lys162Ter
ENST00000645527.1:c.484_487del	ENSP00000496121.1:p.Lys162Ter
ENST00000646663.1:c.484_487del	ENSP00000494693.1:p.Lys162Ter
ENST00000647231.1:c.484_487del	ENSP00000496414.1:p.Lys162Ter
ENST00000343115.8:c.484_487del	ENSP00000342830.4:p.Lys162Ter
ENST00000405097.5:c.484_487del	ENSP00000384136.1:p.Lys162Ter
ENST00000528498.5:c.484_487del	ENSP00000432112.1:p.Lys162Ter
ENST00000528900.5:c.-82-10340_-82-10337del	ENSP00000433580.1:n.-82-10340_-82-10337del
ENST00000529774.1:n.36_39del
ENST00000530131.5:c.113_116del	ENSP00000432829.1:p.Gln38LeufsTer?
ENST00000530301.5:c.388_391del	ENSP00000436277.1:p.Lys130Ter
ENST00000530749.5:c.484_487del	ENSP00000437301.1:p.Lys162Ter
ENST00000534683.1:c.-60_-57del	ENSP00000431560.1:n.-60_-57del
ENST00000544551.5:c.76_79del	ENSP00000445826.1:p.Lys26Ter
NM_001260492.1:c.484_487del	NP_001247421.1:p.Lys162Ter
NM_001260493.1:c.484_487del	NP_001247422.1:p.Lys162Ter
NM_001260494.1:c.76_79del	NP_001247423.1:p.Lys26Ter
NM_001260495.1:c.-82-10340_-82-10337del	NP_001247424.1:n.-82-10340_-82-10337del
NM_001260496.1:c.388_391del	NP_001247425.1:p.Lys130Ter
NM_002906.3:c.484_487del	NP_002897.1:p.Lys162Ter
NM_001260492.2:c.484_487del	NP_001247421.1:p.Lys162Ter
NM_002906.4:c.484_487del MANE Select	NP_002897.1:p.Lys162Ter
NM_001260493.2:c.484_487del	NP_001247422.1:p.Lys162Ter
NM_001260494.2:c.76_79del	NP_001247423.1:p.Lys26Ter
NM_001260495.2:c.-82-10340_-82-10337del	NP_001247424.1:n.-82-10340_-82-10337del
NM_001260496.2:c.388_391del	NP_001247425.1:p.Lys130Ter