Canonical Allele Identifier: CA163123
Gene: ZMYND15 HGNC NCBI
gnomAD v2:
17:4647503 AAAAC / A
gnomAD v3:
17:4744208 AAAAC / A
gnomAD v4:
chr17-4744208-AAAAC-A
Joint Max Group AF 0.00001327 (AMR)
Genomes Max Group AF 0.00005285 (AMR)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV000122741
ClinVar Variation:
135663
dbSNP:
587777432
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4744214_4744217del , CM000679.2:g.4744214_4744217del GRCh38
NC_000017.10:g.4647509_4647512del , CM000679.1:g.4647509_4647512del GRCh37
NC_000017.9:g.4594258_4594261del NCBI36
NG_034160.1:g.9200_9203del

Transcript Alleles

HGVS Amino-acid Change
ENST00000433935.6:c.1520_1523del MANE Select ENSP00000391742.1:p.Lys507SerfsTer3
ENST00000269289.10:c.1520_1523del ENSP00000269289.6:p.Lys507SerfsTer3
ENST00000433935.5:c.1520_1523del ENSP00000391742.1:p.Lys507SerfsTer3
ENST00000571782.1:n.243_246del
ENST00000573751.2:c.1520_1523del ENSP00000459501.1:p.Lys507SerfsTer3
ENST00000574829.5:n.2182_2185del
ENST00000592813.5:c.1403_1406del ENSP00000465435.1:p.Lys468SerfsTer3
NM_001136046.2:c.1520_1523del NP_001129518.1:p.Lys507SerfsTer3
NM_001267822.1:c.1520_1523del NP_001254751.1:p.Lys507SerfsTer3
NM_032265.2:c.1403_1406del NP_115641.1:p.Lys468SerfsTer3
XM_017025218.1:c.968_971del XP_016880707.1:p.Lys323SerfsTer3
NM_001136046.3:c.1520_1523del MANE Select NP_001129518.1:p.Lys507SerfsTer3
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