Canonical Allele Identifier: CA2640134084

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223780-C-CTCTCTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223781_78223787dup , CM000679.2:g.78223781_78223787dup	GRCh38
NC_000017.10:g.76219862_76219868dup , CM000679.1:g.76219862_76219868dup	GRCh37
NC_000017.9:g.73731457_73731463dup	NCBI36
NG_029069.1:g.14586_14592dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*227_*233dup MANE Select	ENSP00000324180.4:n.*227_*233dup
ENST00000301633.8:c.*227_*233dup	ENSP00000301633.3:n.*227_*233dup
ENST00000350051.7:c.*227_*233dup	ENSP00000324180.4:n.*227_*233dup
ENST00000374948.6:c.*124_*130dup	ENSP00000364086.1:n.*124_*130dup
ENST00000589892.1:n.672_678dup
NM_001012270.1:c.*124_*130dup	NP_001012270.1:n.*124_*130dup
NM_001012271.1:c.*227_*233dup	NP_001012271.1:n.*227_*233dup
NM_001168.2:c.*227_*233dup	NP_001159.2:n.*227_*233dup
XR_243654.3:n.858_864dup
XR_934452.1:n.927_933dup
XR_243654.5:n.858_864dup
XR_934452.3:n.927_933dup
NM_001168.3:c.*227_*233dup MANE Select	NP_001159.2:n.*227_*233dup
NM_001012270.2:c.*124_*130dup	NP_001012270.1:n.*124_*130dup
NM_001012271.2:c.*227_*233dup	NP_001012271.1:n.*227_*233dup