Canonical Allele Identifier: CA804698441

Gene: PURA

Linked Data

• dbSNP Id: rs1294815481
• gnomAD v3: 5-140114013-GGTCTCGTCT-G
• gnomAD v4: 5-140114013-GGTCTCGTCT-G
• MyVariant Identifiers: chr5:g.139493599_139493607del (hg19) ; chr5:g.140114014_140114022del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114023_140114031del , CM000667.2:g.140114023_140114031del	GRCh38
NC_000005.9:g.139493608_139493616del , CM000667.1:g.139493608_139493616del	GRCh37
NC_000005.8:g.139473792_139473800del	NCBI36
NG_041813.1:g.4901_4909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505703.2:c.-141-18_-141-10del	ENSP00000498560.1:n.-141-18_-141-10del
ENST00000651386.1:c.-141-18_-141-10del	ENSP00000499133.1:n.-141-18_-141-10del
ENST00000502351.1:n.283-18_283-10del
ENST00000505703.1:n.325-18_325-10del