Canonical Allele Identifier: CA1586593916
Gene: PURA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114446_140114447delinsGC , CM000667.2:g.140114446_140114447delinsGC GRCh38
NC_000005.9:g.139494031_139494032delinsGC , CM000667.1:g.139494031_139494032delinsGC GRCh37
NC_000005.8:g.139474215_139474216delinsGC NCBI36
NG_041813.1:g.5324_5325delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.265_266delinsGC MANE Select ENSP00000332706.3:p.Ala89=
ENST00000505703.2:c.265_266delinsGC ENSP00000498560.1:p.Ala89=
ENST00000651386.1:c.265_266delinsGC ENSP00000499133.1:p.Ala89=
ENST00000331327.4:c.265_266delinsGC ENSP00000332706.3:p.Ala89=
NM_005859.4:c.265_266delinsGC NP_005850.1:p.Ala89=
NM_005859.5:c.265_266delinsGC MANE Select NP_005850.1:p.Ala89=