Canonical Allele Identifier: CA628014620

Gene: BIRC5

Linked Data

• dbSNP Id: rs1440857023
• gnomAD v2: 17-76220141-TTTTG-T
• gnomAD v3: 17-78224060-TTTTG-T
• gnomAD v4: 17-78224060-TTTTG-T
• MyVariant Identifiers: chr17:g.76220142_76220145del (hg19) ; chr17:g.78224061_78224064del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224064_78224067del , CM000679.2:g.78224064_78224067del	GRCh38
NC_000017.10:g.76220145_76220148del , CM000679.1:g.76220145_76220148del	GRCh37
NC_000017.9:g.73731740_73731743del	NCBI36
NG_029069.1:g.14869_14872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*510_*513del MANE Select	ENSP00000324180.4:n.*510_*513del
ENST00000301633.8:c.*510_*513del	ENSP00000301633.3:n.*510_*513del
ENST00000350051.7:c.*510_*513del	ENSP00000324180.4:n.*510_*513del
ENST00000374948.6:c.*407_*410del	ENSP00000364086.1:n.*407_*410del
NM_001012270.1:c.*407_*410del	NP_001012270.1:n.*407_*410del
NM_001012271.1:c.*510_*513del	NP_001012271.1:n.*510_*513del
NM_001168.2:c.*510_*513del	NP_001159.2:n.*510_*513del
XR_243654.3:n.1141_1144del
XR_934452.1:n.1210_1213del
XR_243654.5:n.1141_1144del
XR_934452.3:n.1210_1213del
NM_001168.3:c.*510_*513del MANE Select	NP_001159.2:n.*510_*513del
NM_001012270.2:c.*407_*410del	NP_001012270.1:n.*407_*410del
NM_001012271.2:c.*510_*513del	NP_001012271.1:n.*510_*513del