Canonical Allele Identifier: CA804698456

Gene: PURA

Linked Data

• dbSNP Id: rs1404293152
• MyVariant Identifiers: chr5:g.139493614_139493615del (hg19) ; chr5:g.140114029_140114030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114033_140114034del , CM000667.2:g.140114033_140114034del	GRCh38
NC_000005.9:g.139493618_139493619del , CM000667.1:g.139493618_139493619del	GRCh37
NC_000005.8:g.139473802_139473803del	NCBI36
NG_041813.1:g.4911_4912del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505703.2:c.-141-8_-141-7del	ENSP00000498560.1:n.-141-8_-141-7del
ENST00000651386.1:c.-141-8_-141-7del	ENSP00000499133.1:n.-141-8_-141-7del
ENST00000502351.1:n.283-8_283-7del
ENST00000505703.1:n.325-8_325-7del