Canonical Allele Identifier: CA554175820

Gene: ANXA5

Linked Data

• dbSNP Id: rs1339555540
• gnomAD v2: 4-122614315-GGAAGCA-G
• gnomAD v3: 4-121693160-GGAAGCA-G
• gnomAD v4: 4-121693160-GGAAGCA-G
• MyVariant Identifiers: chr4:g.122614316_122614321del (hg19) ; chr4:g.121693161_121693166del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121693163_121693168del , CM000666.2:g.121693163_121693168del	GRCh38
NC_000004.11:g.122614318_122614323del , CM000666.1:g.122614318_122614323del	GRCh37
NC_000004.10:g.122833768_122833773del	NCBI36
NG_032042.1:g.8827_8832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296511.10:c.9+3415_9+3420del MANE Select	ENSP00000296511.5:n.9+3415_9+3420del
ENST00000296511.9:c.9+3415_9+3420del	ENSP00000296511.5:n.9+3415_9+3420del
ENST00000501272.6:c.9+3415_9+3420del	ENSP00000424106.1:n.9+3415_9+3420del
ENST00000506395.5:c.9+3415_9+3420del	ENSP00000421421.1:n.9+3415_9+3420del
ENST00000509016.5:n.130+3697_130+3702del
ENST00000511552.5:n.395+3415_395+3420del
ENST00000513428.5:n.174+3415_174+3420del
ENST00000513523.1:n.177+3415_177+3420del
ENST00000513728.1:c.9+3415_9+3420del	ENSP00000427135.1:n.9+3415_9+3420del
ENST00000515017.5:c.9+3415_9+3420del	ENSP00000424199.1:n.9+3415_9+3420del
NM_001154.3:c.9+3415_9+3420del	NP_001145.1:n.9+3415_9+3420del
XM_017008141.2:c.9+3415_9+3420del	XP_016863630.1:n.9+3415_9+3420del
NM_001154.4:c.9+3415_9+3420del MANE Select	NP_001145.1:n.9+3415_9+3420del