Canonical Allele Identifier: CA893042927
Gene: EVA1A HGNC NCBI

Linked Data

dbSNP Id: rs1193499642
gnomAD v3: 2-75565018-AC-A
gnomAD v4: 2-75565018-AC-A
MyVariant Identifiers: chr2:g.75792145del (hg19) chr2:g.75565019del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75565020del , CM000664.2:g.75565020del GRCh38
NC_000002.11:g.75792146del , CM000664.1:g.75792146del GRCh37
NC_000002.10:g.75645654del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000233712.5:c.-192+4457del ENSP00000233712.1:n.-192+4457del
ENST00000486696.1:n.223+4457del
NM_032181.2:c.-192+4457del NP_115557.1:n.-192+4457del
NM_032181.3:c.-192+4457del NP_115557.1:n.-192+4457del
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