Canonical Allele Identifier: CA2576515614
Gene: RAX HGNC NCBI

Linked Data

gnomAD v4: 18-59269205-AGGC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59269214_59269216del , CM000680.2:g.59269214_59269216del GRCh38
NC_000018.9:g.56936446_56936448del , CM000680.1:g.56936446_56936448del GRCh37
NC_000018.8:g.55087426_55087428del NCBI36
NG_013031.1:g.9186_9188del

Transcript Alleles

HGVS Amino-acid change
ENST00000334889.4:c.837_839del MANE Select ENSP00000334813.3:p.Pro280del
ENST00000256852.7:c.*268_*270del ENSP00000256852.7:n.*268_*270del
ENST00000334889.3:c.837_839del ENSP00000334813.3:p.Pro280del
NM_013435.2:c.837_839del NP_038463.2:p.Pro280del
NM_013435.3:c.837_839del MANE Select NP_038463.2:p.Pro280del
Search 100 bp 5'
Search 100 bp 3'