Canonical Allele Identifier: CA2740098085
Gene: PURA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114490_140114495del , CM000667.2:g.140114490_140114495del GRCh38
NC_000005.9:g.139494075_139494080del , CM000667.1:g.139494075_139494080del GRCh37
NC_000005.8:g.139474259_139474264del NCBI36
NG_041813.1:g.5368_5373del

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.309_314del MANE Select ENSP00000332706.3:p.Met104_Ser105del
ENST00000505703.2:c.309_314del ENSP00000498560.1:p.Met104_Ser105del
ENST00000651386.1:c.309_314del ENSP00000499133.1:p.Met104_Ser105del
ENST00000331327.4:c.309_314del ENSP00000332706.3:p.Met104_Ser105del
NM_005859.4:c.309_314del NP_005850.1:p.Met104_Ser105del
NM_005859.5:c.309_314del MANE Select NP_005850.1:p.Met104_Ser105del