Canonical Allele Identifier: CA893042864
Gene: EVA1A HGNC NCBI

Linked Data

dbSNP Id: rs1279768233
gnomAD v3: 2-75564914-ACC-A
gnomAD v4: 2-75564914-ACC-A
MyVariant Identifiers: chr2:g.75792041_75792042del (hg19) chr2:g.75564915_75564916del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75564916_75564917del , CM000664.2:g.75564916_75564917del GRCh38
NC_000002.11:g.75792042_75792043del , CM000664.1:g.75792042_75792043del GRCh37
NC_000002.10:g.75645550_75645551del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000233712.5:c.-192+4560_-192+4561del ENSP00000233712.1:n.-192+4560_-192+4561de...
ENST00000486696.1:n.223+4560_223+4561del
NM_032181.2:c.-192+4560_-192+4561del NP_115557.1:n.-192+4560_-192+4561del
NM_032181.3:c.-192+4560_-192+4561del NP_115557.1:n.-192+4560_-192+4561del
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