Canonical Allele Identifier: CA1586594059

Gene: PURA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114481_140114490delinsTACTCTCTCC , CM000667.2:g.140114481_140114490delinsTACTCTCTCC	GRCh38
NC_000005.9:g.139494066_139494075delinsTACTCTCTCC , CM000667.1:g.139494066_139494075delinsTACTCTCTCC	GRCh37
NC_000005.8:g.139474250_139474259delinsTACTCTCTCC	NCBI36
NG_041813.1:g.5359_5368delinsTACTCTCTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000331327.5:c.300_309delinsTACTCTCTCC MANE Select	ENSP00000332706.3:p.Leu100=
ENST00000505703.2:c.300_309delinsTACTCTCTCC	ENSP00000498560.1:p.Leu100=
ENST00000651386.1:c.300_309delinsTACTCTCTCC	ENSP00000499133.1:p.Leu100=
ENST00000331327.4:c.300_309delinsTACTCTCTCC	ENSP00000332706.3:p.Leu100=
NM_005859.4:c.300_309delinsTACTCTCTCC	NP_005850.1:p.Leu100=
NM_005859.5:c.300_309delinsTACTCTCTCC MANE Select	NP_005850.1:p.Leu100=