Canonical Allele Identifier: CA554174435

Gene: ANXA5

Linked Data

• gnomAD v2: 4-122607202-C-CTTTT
• gnomAD v3: 4-121686047-C-CTTTT
• gnomAD v4: 4-121686047-C-CTTTT
• MyVariant Identifiers: chr4:g.122607202_122607203insTTTT (hg19) ; chr4:g.121686047_121686048insTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121686048_121686049insTTTT , CM000666.2:g.121686048_121686049insTTTT	GRCh38
NC_000004.11:g.122607203_122607204insTTTT , CM000666.1:g.122607203_122607204insTTTT	GRCh37
NC_000004.10:g.122826653_122826654insTTTT	NCBI36
NG_032042.1:g.15945_15946insAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000296511.10:c.94+240_94+241insAAAA MANE Select	ENSP00000296511.5:n.94+240_94+241insAAAA
ENST00000296511.9:c.94+240_94+241insAAAA	ENSP00000296511.5:n.94+240_94+241insAAAA
ENST00000501272.6:c.10-2571_10-2570insAAAA	ENSP00000424106.1:n.10-2571_10-2570insAAA...
ENST00000506395.5:c.94+240_94+241insAAAA	ENSP00000421421.1:n.94+240_94+241insAAAA
ENST00000509016.5:n.215+240_215+241insAAAA
ENST00000511552.5:n.480+240_480+241insAAAA
ENST00000513428.5:n.259+240_259+241insAAAA
ENST00000513523.1:n.262+240_262+241insAAAA
ENST00000513728.1:c.94+240_94+241insAAAA	ENSP00000427135.1:n.94+240_94+241insAAAA
ENST00000515017.5:c.94+240_94+241insAAAA	ENSP00000424199.1:n.94+240_94+241insAAAA
NM_001154.3:c.94+240_94+241insAAAA	NP_001145.1:n.94+240_94+241insAAAA
XM_017008141.2:c.94+240_94+241insAAAA	XP_016863630.1:n.94+240_94+241insAAAA
NM_001154.4:c.94+240_94+241insAAAA MANE Select	NP_001145.1:n.94+240_94+241insAAAA