Canonical Allele Identifier: CA1082925393
Gene: ANXA6 HGNC NCBI

Linked Data

dbSNP Id: rs1295076118
gnomAD v3: 5-151100729-CTTT-C
gnomAD v4: 5-151100729-CTTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151100732_151100734del , CM000667.2:g.151100732_151100734del GRCh38
NC_000005.9:g.150480293_150480295del , CM000667.1:g.150480293_150480295del GRCh37
NC_000005.8:g.150460486_150460488del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354546.10:c.*716_*718del MANE Select ENSP00000346550.5:n.*716_*718del
ENST00000522664.5:c.431_433del
NM_001155.4:c.*716_*718del NP_001146.2:n.*716_*718del
NM_001193544.1:c.*716_*718del NP_001180473.1:n.*716_*718del
NM_001363114.1:c.*716_*718del NP_001350043.1:n.*716_*718del
NM_001155.5:c.*716_*718del MANE Select NP_001146.2:n.*716_*718del
NM_001193544.2:c.*716_*718del NP_001180473.1:n.*716_*718del
NM_001363114.2:c.*716_*718del NP_001350043.1:n.*716_*718del
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