Canonical Allele Identifier: CA5716512

Gene: BAG3

Linked Data

• ClinVar Variation Id: 410228
• ClinVar RCV Id: RCV000457258 ; RCV001696901 ; RCV002365647
• dbSNP Id: rs761727804
• ExAC: 10:121436295 CAGG / C
• gnomAD v2: 10-121436295-CAGG-C
• gnomAD v3: 10-119676783-CAGG-C
• gnomAD v4: 10-119676783-CAGG-C
• MyVariant Identifiers: chr10:g.121436298_121436300del (hg19) ; chr10:g.121436296_121436298del (hg19) ; chr10:g.119676786_119676788del (hg38) ; chr10:g.119676785_119676787del (hg38) ; chr10:g.119676784_119676786del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119676786_119676788del , CM000672.2:g.119676786_119676788del	GRCh38
NC_000010.10:g.121436298_121436300del , CM000672.1:g.121436298_121436300del	GRCh37
NC_000010.9:g.121426288_121426290del	NCBI36
NG_016125.1:g.30417_30419del , LRG_742:g.30417_30419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369085.8:c.1232_1234del MANE Select	ENSP00000358081.4:p.Gly411del
ENST00000369085.7:c.1232_1234del	ENSP00000358081.3:p.Gly411del
NM_004281.3:c.1232_1234del , LRG_742t1:c.1232_1234del	NP_004272.2:p.Gly411del
XM_005270287.1:c.1229_1231del	XP_005270344.1:p.Gly410del
XM_005270287.2:c.1229_1231del	XP_005270344.1:p.Gly410del
NM_004281.4:c.1232_1234del MANE Select	NP_004272.2:p.Gly411del