Canonical Allele Identifier: CA2640134774

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224056-G-GTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224061_78224063dup , CM000679.2:g.78224061_78224063dup	GRCh38
NC_000017.10:g.76220142_76220144dup , CM000679.1:g.76220142_76220144dup	GRCh37
NC_000017.9:g.73731737_73731739dup	NCBI36
NG_029069.1:g.14866_14868dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*507_*509dup MANE Select	ENSP00000324180.4:n.*507_*509dup
ENST00000301633.8:c.*507_*509dup	ENSP00000301633.3:n.*507_*509dup
ENST00000350051.7:c.*507_*509dup	ENSP00000324180.4:n.*507_*509dup
ENST00000374948.6:c.*404_*406dup	ENSP00000364086.1:n.*404_*406dup
NM_001012270.1:c.*404_*406dup	NP_001012270.1:n.*404_*406dup
NM_001012271.1:c.*507_*509dup	NP_001012271.1:n.*507_*509dup
NM_001168.2:c.*507_*509dup	NP_001159.2:n.*507_*509dup
XR_243654.3:n.1138_1140dup
XR_934452.1:n.1207_1209dup
XR_243654.5:n.1138_1140dup
XR_934452.3:n.1207_1209dup
NM_001168.3:c.*507_*509dup MANE Select	NP_001159.2:n.*507_*509dup
NM_001012270.2:c.*404_*406dup	NP_001012270.1:n.*404_*406dup
NM_001012271.2:c.*507_*509dup	NP_001012271.1:n.*507_*509dup