Canonical Allele Identifier: CA628014602

Gene: BIRC5

Linked Data

• gnomAD v2: 17-76220121-G-GTTTTT
• MyVariant Identifiers: chr17:g.76220121_76220122insTTTTT (hg19) ; chr17:g.78224040_78224041insTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224043_78224047dup , CM000679.2:g.78224043_78224047dup	GRCh38
NC_000017.10:g.76220124_76220128dup , CM000679.1:g.76220124_76220128dup	GRCh37
NC_000017.9:g.73731719_73731723dup	NCBI36
NG_029069.1:g.14848_14852dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*489_*493dup MANE Select	ENSP00000324180.4:n.*489_*493dup
ENST00000301633.8:c.*489_*493dup	ENSP00000301633.3:n.*489_*493dup
ENST00000350051.7:c.*489_*493dup	ENSP00000324180.4:n.*489_*493dup
ENST00000374948.6:c.*386_*390dup	ENSP00000364086.1:n.*386_*390dup
NM_001012270.1:c.*386_*390dup	NP_001012270.1:n.*386_*390dup
NM_001012271.1:c.*489_*493dup	NP_001012271.1:n.*489_*493dup
NM_001168.2:c.*489_*493dup	NP_001159.2:n.*489_*493dup
XR_243654.3:n.1120_1124dup
XR_934452.1:n.1189_1193dup
XR_243654.5:n.1120_1124dup
XR_934452.3:n.1189_1193dup
NM_001168.3:c.*489_*493dup MANE Select	NP_001159.2:n.*489_*493dup
NM_001012270.2:c.*386_*390dup	NP_001012270.1:n.*386_*390dup
NM_001012271.2:c.*489_*493dup	NP_001012271.1:n.*489_*493dup