Canonical Allele Identifier: CA628014609

Gene: BIRC5

Linked Data

• gnomAD v2: 17-76220131-TGTTGTG-T
• gnomAD v4: 17-78224050-TGTTGTG-T
• MyVariant Identifiers: chr17:g.76220132_76220145delinsTTTTTTTG (hg19) ; chr17:g.78224051_78224064delinsTTTTTTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224051_78224056del , CM000679.2:g.78224051_78224056del	GRCh38
NC_000017.10:g.76220132_76220137del , CM000679.1:g.76220132_76220137del	GRCh37
NC_000017.9:g.73731727_73731732del	NCBI36
NG_029069.1:g.14856_14861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*497_*502del MANE Select	ENSP00000324180.4:n.*497_*502del
ENST00000301633.8:c.*497_*502del	ENSP00000301633.3:n.*497_*502del
ENST00000350051.7:c.*497_*502del	ENSP00000324180.4:n.*497_*502del
ENST00000374948.6:c.*394_*399del	ENSP00000364086.1:n.*394_*399del
NM_001012270.1:c.*394_*399del	NP_001012270.1:n.*394_*399del
NM_001012271.1:c.*497_*502del	NP_001012271.1:n.*497_*502del
NM_001168.2:c.*497_*502del	NP_001159.2:n.*497_*502del
XR_243654.3:n.1128_1133del
XR_934452.1:n.1197_1202del
XR_243654.5:n.1128_1133del
XR_934452.3:n.1197_1202del
NM_001168.3:c.*497_*502del MANE Select	NP_001159.2:n.*497_*502del
NM_001012270.2:c.*394_*399del	NP_001012270.1:n.*394_*399del
NM_001012271.2:c.*497_*502del	NP_001012271.1:n.*497_*502del