Canonical Allele Identifier: CA2542583831
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114259-GGGCTCA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114265_140114270del , CM000667.2:g.140114265_140114270del GRCh38
NC_000005.9:g.139493850_139493855del , CM000667.1:g.139493850_139493855del GRCh37
NC_000005.8:g.139474034_139474039del NCBI36
NG_041813.1:g.5143_5148del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.84_89del MANE Select ENSP00000332706.3:p.Gly29_Ser30del
ENST00000505703.2:c.84_89del ENSP00000498560.1:p.Gly29_Ser30del
ENST00000651386.1:c.84_89del ENSP00000499133.1:p.Gly29_Ser30del
ENST00000331327.4:c.84_89del ENSP00000332706.3:p.Gly29_Ser30del
ENST00000505703.1:n.549_554del
NM_005859.4:c.84_89del NP_005850.1:p.Gly29_Ser30del
NM_005859.5:c.84_89del MANE Select NP_005850.1:p.Gly29_Ser30del
Search 100 bp 5'
Search 100 bp 3'