Canonical Allele Identifier: CA786356132

Gene: ANXA5

Linked Data

• dbSNP Id: rs1217967752
• gnomAD v3: 4-121693240-G-GAA
• gnomAD v4: 4-121693240-G-GAA
• MyVariant Identifiers: chr4:g.122614395_122614396insAA (hg19) ; chr4:g.121693240_121693241insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121693250_121693251dup , CM000666.2:g.121693250_121693251dup	GRCh38
NC_000004.11:g.122614405_122614406dup , CM000666.1:g.122614405_122614406dup	GRCh37
NC_000004.10:g.122833855_122833856dup	NCBI36
NG_032042.1:g.8751_8752dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296511.10:c.9+3339_9+3340dup MANE Select	ENSP00000296511.5:n.9+3339_9+3340dup
ENST00000296511.9:c.9+3339_9+3340dup	ENSP00000296511.5:n.9+3339_9+3340dup
ENST00000501272.6:c.9+3339_9+3340dup	ENSP00000424106.1:n.9+3339_9+3340dup
ENST00000506395.5:c.9+3339_9+3340dup	ENSP00000421421.1:n.9+3339_9+3340dup
ENST00000509016.5:n.130+3621_130+3622dup
ENST00000511552.5:n.395+3339_395+3340dup
ENST00000513428.5:n.174+3339_174+3340dup
ENST00000513523.1:n.177+3339_177+3340dup
ENST00000513728.1:c.9+3339_9+3340dup	ENSP00000427135.1:n.9+3339_9+3340dup
ENST00000515017.5:c.9+3339_9+3340dup	ENSP00000424199.1:n.9+3339_9+3340dup
NM_001154.3:c.9+3339_9+3340dup	NP_001145.1:n.9+3339_9+3340dup
XM_017008141.2:c.9+3339_9+3340dup	XP_016863630.1:n.9+3339_9+3340dup
NM_001154.4:c.9+3339_9+3340dup MANE Select	NP_001145.1:n.9+3339_9+3340dup