Canonical Allele Identifier: CA1586594042

Gene: PURA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114478_140114496delinsCCTTACTCTCTCCATGTCA , CM000667.2:g.140114478_140114496delinsCCTTACTCTCTCCATGTCA	GRCh38
NC_000005.9:g.139494063_139494081delinsCCTTACTCTCTCCATGTCA , CM000667.1:g.139494063_139494081delinsCCTTACTCTCTCCATGTCA	GRCh37
NC_000005.8:g.139474247_139474265delinsCCTTACTCTCTCCATGTCA	NCBI36
NG_041813.1:g.5356_5374delinsCCTTACTCTCTCCATGTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000331327.5:c.297_315delinsCCTTACTCTCTCCATGTCA MANE Select	ENSP00000332706.3:p.Arg99=
ENST00000505703.2:c.297_315delinsCCTTACTCTCTCCATGTCA	ENSP00000498560.1:p.Arg99=
ENST00000651386.1:c.297_315delinsCCTTACTCTCTCCATGTCA	ENSP00000499133.1:p.Arg99=
ENST00000331327.4:c.297_315delinsCCTTACTCTCTCCATGTCA	ENSP00000332706.3:p.Arg99=
NM_005859.4:c.297_315delinsCCTTACTCTCTCCATGTCA	NP_005850.1:p.Arg99=
NM_005859.5:c.297_315delinsCCTTACTCTCTCCATGTCA MANE Select	NP_005850.1:p.Arg99=