Canonical Allele Identifier: CA774738561
Gene: PHF23 HGNC NCBI

Linked Data

dbSNP Id: rs1459404714
MyVariant Identifiers: chr17:g.7142846_7142848del (hg19) chr17:g.7239527_7239529del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7239531_7239533del , CM000679.2:g.7239531_7239533del GRCh38
NC_000017.10:g.7142850_7142852del , CM000679.1:g.7142850_7142852del GRCh37
NC_000017.9:g.7083574_7083576del NCBI36
NG_033038.1:g.16_18del

Transcript Alleles

HGVS Amino-acid change
ENST00000570899.1:c.46+57_46+59del ENSP00000458416.1:n.46+57_46+59del
XM_006721576.2:c.46+57_46+59del XP_006721639.1:n.46+57_46+59del
XM_024450938.1:c.46+57_46+59del XP_024306706.1:n.46+57_46+59del
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