Canonical Allele Identifier: CA2675565401
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114270-CCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114275_140114307del , CM000667.2:g.140114275_140114307del GRCh38
NC_000005.9:g.139493860_139493892del , CM000667.1:g.139493860_139493892del GRCh37
NC_000005.8:g.139474044_139474076del NCBI36
NG_041813.1:g.5153_5185del

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.94_126del MANE Select ENSP00000332706.3:p.Gly32_Gly42del
ENST00000505703.2:c.94_126del ENSP00000498560.1:p.Gly32_Gly42del
ENST00000651386.1:c.94_126del ENSP00000499133.1:p.Gly32_Gly42del
ENST00000331327.4:c.94_126del ENSP00000332706.3:p.Gly32_Gly42del
ENST00000505703.1:n.559_591del
NM_005859.4:c.94_126del NP_005850.1:p.Gly32_Gly42del
NM_005859.5:c.94_126del MANE Select NP_005850.1:p.Gly32_Gly42del
Search 100 bp 5'
Search 100 bp 3'