Canonical Allele Identifier: CA2675565353
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114161-GCGGCA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114162_140114166del , CM000667.2:g.140114162_140114166del GRCh38
NC_000005.9:g.139493747_139493751del , CM000667.1:g.139493747_139493751del GRCh37
NC_000005.8:g.139473931_139473935del NCBI36
NG_041813.1:g.5040_5044del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.-20_-16del MANE Select ENSP00000332706.3:n.-20_-16del
ENST00000505703.2:c.-20_-16del ENSP00000498560.1:n.-20_-16del
ENST00000651386.1:c.-20_-16del ENSP00000499133.1:n.-20_-16del
ENST00000331327.4:c.-20_-16del ENSP00000332706.3:n.-20_-16del
ENST00000502351.1:n.404_408del
ENST00000505703.1:n.446_450del
NM_005859.4:c.-20_-16del NP_005850.1:n.-20_-16del
NM_005859.5:c.-20_-16del MANE Select NP_005850.1:n.-20_-16del
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