Canonical Allele Identifier: CA893042945
Gene: EVA1A HGNC NCBI

Linked Data

dbSNP Id: rs1380271281
gnomAD v3: 2-75565040-AAT-A
gnomAD v4: 2-75565040-AAT-A
MyVariant Identifiers: chr2:g.75792167_75792168del (hg19) chr2:g.75565041_75565042del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.75565043_75565044del , CM000664.2:g.75565043_75565044del GRCh38
NC_000002.11:g.75792169_75792170del , CM000664.1:g.75792169_75792170del GRCh37
NC_000002.10:g.75645677_75645678del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000233712.5:c.-192+4434_-192+4435del ENSP00000233712.1:n.-192+4434_-192+4435de...
ENST00000486696.1:n.223+4434_223+4435del
NM_032181.2:c.-192+4434_-192+4435del NP_115557.1:n.-192+4434_-192+4435del
NM_032181.3:c.-192+4434_-192+4435del NP_115557.1:n.-192+4434_-192+4435del
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