Canonical Allele Identifier: CA1067434040

Gene: ANXA5

Linked Data

• dbSNP Id: rs1725021675
• gnomAD v3: 4-121693410-AAC-A
• gnomAD v4: 4-121693410-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121693412_121693413del , CM000666.2:g.121693412_121693413del	GRCh38
NC_000004.11:g.122614567_122614568del , CM000666.1:g.122614567_122614568del	GRCh37
NC_000004.10:g.122834017_122834018del	NCBI36
NG_032042.1:g.8581_8582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296511.10:c.9+3169_9+3170del MANE Select	ENSP00000296511.5:n.9+3169_9+3170del
ENST00000296511.9:c.9+3169_9+3170del	ENSP00000296511.5:n.9+3169_9+3170del
ENST00000501272.6:c.9+3169_9+3170del	ENSP00000424106.1:n.9+3169_9+3170del
ENST00000506395.5:c.9+3169_9+3170del	ENSP00000421421.1:n.9+3169_9+3170del
ENST00000509016.5:n.130+3451_130+3452del
ENST00000511552.5:n.395+3169_395+3170del
ENST00000513428.5:n.174+3169_174+3170del
ENST00000513523.1:n.177+3169_177+3170del
ENST00000513728.1:c.9+3169_9+3170del	ENSP00000427135.1:n.9+3169_9+3170del
ENST00000515017.5:c.9+3169_9+3170del	ENSP00000424199.1:n.9+3169_9+3170del
NM_001154.3:c.9+3169_9+3170del	NP_001145.1:n.9+3169_9+3170del
XM_017008141.2:c.9+3169_9+3170del	XP_016863630.1:n.9+3169_9+3170del
NM_001154.4:c.9+3169_9+3170del MANE Select	NP_001145.1:n.9+3169_9+3170del