Canonical Allele Identifier: CA2685914956
Gene: ERICH1 HGNC NCBI

Linked Data

gnomAD v4: 8-615784-TA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.615788del , CM000670.2:g.615788del GRCh38
NC_000008.10:g.565788del , CM000670.1:g.565788del GRCh37
NC_000008.9:g.555788del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-501del ENSP00000428635.1:n.977-501del
ENST00000523415.5:c.2594del
NM_001303100.1:c.*786del NP_001290029.1:n.*786del
XM_011534732.1:c.1442-501del XP_011533034.1:n.1442-501del
XM_011534735.1:c.*2221del XP_011533037.1:n.*2221del
XM_011534735.3:c.*2221del XP_011533037.1:n.*2221del
XM_017013124.2:c.1457-501del XP_016868613.1:n.1457-501del
NM_001303100.2:c.*786del NP_001290029.1:n.*786del
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