Canonical Allele Identifier: CA630396730
Gene: RAX HGNC NCBI

Linked Data

gnomAD v2: 18-56936374-GGGC-G
gnomAD v4: 18-59269142-GGGC-G
MyVariant Identifiers: chr18:g.56936375_56936377del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59269153_59269155del , CM000680.2:g.59269153_59269155del GRCh38
NC_000018.9:g.56936385_56936387del , CM000680.1:g.56936385_56936387del GRCh37
NC_000018.8:g.55087365_55087367del NCBI36
NG_013031.1:g.9249_9251del

Transcript Alleles

HGVS Amino-acid change
ENST00000334889.4:c.900_902del MANE Select ENSP00000334813.3:p.Pro301del
ENST00000256852.7:c.*331_*333del ENSP00000256852.7:n.*331_*333del
ENST00000334889.3:c.900_902del ENSP00000334813.3:p.Pro301del
NM_013435.2:c.900_902del NP_038463.2:p.Pro301del
NM_013435.3:c.900_902del MANE Select NP_038463.2:p.Pro301del
Search 100 bp 5'
Search 100 bp 3'