Canonical Allele Identifier: CA563504660

Gene: PURA

Linked Data

• ClinVar Variation Id: 582106
• ClinVar RCV Id: RCV000706091
• dbSNP Id: rs1433370088
• gnomAD v2: 5-139493866-GGTGGTGGCGGCGGGGGCGGCGGCGGCA-G
• gnomAD v3: 5-140114281-GGTGGTGGCGGCGGGGGCGGCGGCGGCA-G
• gnomAD v4: 5-140114281-GGTGGTGGCGGCGGGGGCGGCGGCGGCA-G
• MyVariant Identifiers: chr5:g.139493871_139493897del (hg19) ; chr5:g.139493867_139493893del (hg19) ; chr5:g.140114286_140114312del (hg38) ; chr5:g.140114282_140114308del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114286_140114312del , CM000667.2:g.140114286_140114312del	GRCh38
NC_000005.9:g.139493871_139493897del , CM000667.1:g.139493871_139493897del	GRCh37
NC_000005.8:g.139474055_139474081del	NCBI36
NG_041813.1:g.5164_5190del

Transcript Alleles

HGVS	Amino-acid change
ENST00000331327.5:c.105_131del MANE Select	ENSP00000332706.3:p.Gly36_Gly44del
ENST00000505703.2:c.105_131del	ENSP00000498560.1:p.Gly36_Gly44del
ENST00000651386.1:c.105_131del	ENSP00000499133.1:p.Gly36_Gly44del
ENST00000331327.4:c.105_131del	ENSP00000332706.3:p.Gly36_Gly44del
ENST00000505703.1:n.570_596del
NM_005859.4:c.105_131del	NP_005850.1:p.Gly36_Gly44del
NM_005859.5:c.105_131del MANE Select	NP_005850.1:p.Gly36_Gly44del