Canonical Allele Identifier: CA853937123
Gene: ERICH1 HGNC NCBI

Linked Data

dbSNP Id: rs1191863041
gnomAD v3: 8-615729-GA-G
gnomAD v4: 8-615729-GA-G
MyVariant Identifiers: chr8:g.565730del (hg19) chr8:g.615730del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.615730del , CM000670.2:g.615730del GRCh38
NC_000008.10:g.565730del , CM000670.1:g.565730del GRCh37
NC_000008.9:g.555730del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-446del ENSP00000428635.1:n.977-446del
ENST00000523415.5:c.2649del
NM_001303100.1:c.*841del NP_001290029.1:n.*841del
XM_011534732.1:c.1442-446del XP_011533034.1:n.1442-446del
XM_011534735.1:c.*2276del XP_011533037.1:n.*2276del
XM_011534735.3:c.*2276del XP_011533037.1:n.*2276del
XM_017013124.2:c.1457-446del XP_016868613.1:n.1457-446del
NM_001303100.2:c.*841del NP_001290029.1:n.*841del
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