Canonical Allele Identifier: CA786356187

Gene: ANXA5

Linked Data

• dbSNP Id: rs1409007159
• gnomAD v3: 4-121693337-AAACT-A
• gnomAD v4: 4-121693337-AAACT-A
• MyVariant Identifiers: chr4:g.122614493_122614496del (hg19) ; chr4:g.121693338_121693341del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121693344_121693347del , CM000666.2:g.121693344_121693347del	GRCh38
NC_000004.11:g.122614499_122614502del , CM000666.1:g.122614499_122614502del	GRCh37
NC_000004.10:g.122833949_122833952del	NCBI36
NG_032042.1:g.8652_8655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296511.10:c.9+3240_9+3243del MANE Select	ENSP00000296511.5:n.9+3240_9+3243del
ENST00000296511.9:c.9+3240_9+3243del	ENSP00000296511.5:n.9+3240_9+3243del
ENST00000501272.6:c.9+3240_9+3243del	ENSP00000424106.1:n.9+3240_9+3243del
ENST00000506395.5:c.9+3240_9+3243del	ENSP00000421421.1:n.9+3240_9+3243del
ENST00000509016.5:n.130+3522_130+3525del
ENST00000511552.5:n.395+3240_395+3243del
ENST00000513428.5:n.174+3240_174+3243del
ENST00000513523.1:n.177+3240_177+3243del
ENST00000513728.1:c.9+3240_9+3243del	ENSP00000427135.1:n.9+3240_9+3243del
ENST00000515017.5:c.9+3240_9+3243del	ENSP00000424199.1:n.9+3240_9+3243del
NM_001154.3:c.9+3240_9+3243del	NP_001145.1:n.9+3240_9+3243del
XM_017008141.2:c.9+3240_9+3243del	XP_016863630.1:n.9+3240_9+3243del
NM_001154.4:c.9+3240_9+3243del MANE Select	NP_001145.1:n.9+3240_9+3243del