Canonical Allele Identifier: CA2619273422
Gene: ZC3H10 HGNC NCBI
ESYT1 HGNC NCBI

Linked Data

gnomAD v4: 12-56124552-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56124555del , CM000674.2:g.56124555del GRCh38
NC_000012.11:g.56518339del , CM000674.1:g.56518339del GRCh37
NC_000012.10:g.54804606del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000257940.7:c.*2688del (ZC3H10) MANE Select ENSP00000257940.2:n.*2688del
ENST00000257940.6:c.*2688del (ZC3H10) ENSP00000257940.2:n.*2688del
ENST00000551790.5:c.-143-3985del (ESYT1) ENSP00000447756.1:n.-143-3985del
NM_032786.3:c.*2688del (ZC3H10) MANE Select NP_116175.1:n.*2688del
NM_001303124.2:c.*2688del (ZC3H10) NP_001290053.1:n.*2688del
NM_001303125.2:c.*2688del (ZC3H10) NP_001290054.1:n.*2688del
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