Canonical Allele Identifier: CA563504650

Gene: PURA

Linked Data

• dbSNP Id: rs1177539648
• gnomAD v2: 5-139493715-G-GGCGGCGGGCGGA
• gnomAD v3: 5-140114130-G-GGCGGCGGGCGGA
• gnomAD v4: 5-140114130-G-GGCGGCGGGCGGA
• MyVariant Identifiers: chr5:g.139493715_139493716insGCGGCGGGCGGA (hg19) ; chr5:g.140114130_140114131insGCGGCGGGCGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114136_140114147dup , CM000667.2:g.140114136_140114147dup	GRCh38
NC_000005.9:g.139493721_139493732dup , CM000667.1:g.139493721_139493732dup	GRCh37
NC_000005.8:g.139473905_139473916dup	NCBI36
NG_041813.1:g.5014_5025dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.-46_-35dup MANE Select	ENSP00000332706.3:n.-46_-35dup
ENST00000505703.2:c.-46_-35dup	ENSP00000498560.1:n.-46_-35dup
ENST00000651386.1:c.-46_-35dup	ENSP00000499133.1:n.-46_-35dup
ENST00000331327.4:c.-46_-35dup	ENSP00000332706.3:n.-46_-35dup
ENST00000502351.1:n.378_389dup
ENST00000505703.1:n.420_431dup
NM_005859.4:c.-46_-35dup	NP_005850.1:n.-46_-35dup
NM_005859.5:c.-46_-35dup MANE Select	NP_005850.1:n.-46_-35dup