Canonical Allele Identifier: CA2740094092
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 3057145
ClinVar RCV Id: RCV003964482
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114378_140114380del , CM000667.2:g.140114378_140114380del GRCh38
NC_000005.9:g.139493963_139493965del , CM000667.1:g.139493963_139493965del GRCh37
NC_000005.8:g.139474147_139474149del NCBI36
NG_041813.1:g.5256_5258del

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.197_199del MANE Select ENSP00000332706.3:p.Val66del
ENST00000505703.2:c.197_199del ENSP00000498560.1:p.Val66del
ENST00000651386.1:c.197_199del ENSP00000499133.1:p.Val66del
ENST00000331327.4:c.197_199del ENSP00000332706.3:p.Val66del
NM_005859.4:c.197_199del NP_005850.1:p.Val66del
NM_005859.5:c.197_199del MANE Select NP_005850.1:p.Val66del
Search 100 bp 5'
Search 100 bp 3'