Canonical Allele Identifier: CA2573145589
Gene: BAG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1675064
ClinVar RCV Id: RCV002204523 RCV003774628
dbSNP Id: rs2134065084
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119672359del , CM000672.2:g.119672359del GRCh38
NC_000010.10:g.121431871del , CM000672.1:g.121431871del GRCh37
NC_000010.9:g.121421861del NCBI36
NG_016125.1:g.25990del , LRG_742:g.25990del

Transcript Alleles

HGVS Amino-acid change
ENST00000369085.8:c.612del MANE Select ENSP00000358081.4:p.Tyr205ThrfsTer6
ENST00000369085.7:c.612del ENSP00000358081.3:p.Tyr205ThrfsTer6
ENST00000450186.1:c.438del ENSP00000410036.1:p.Tyr147ThrfsTer6
NM_004281.3:c.612del , LRG_742t1:c.612del NP_004272.2:p.Tyr205ThrfsTer6
XM_005270287.1:c.612del XP_005270344.1:p.Tyr205ThrfsTer6
XM_005270287.2:c.612del XP_005270344.1:p.Tyr205ThrfsTer6
NM_004281.4:c.612del MANE Select NP_004272.2:p.Tyr205ThrfsTer6
Search 100 bp 5'
Search 100 bp 3'