Canonical Allele Identifier: CA497627479
Gene: PHF23 HGNC NCBI

Linked Data

dbSNP Id: rs1179080234
gnomAD v3: 17-7239524-T-TCTCTCCTCCC
gnomAD v4: 17-7239524-T-TCTCTCCTCCC
MyVariant Identifiers: chr17:g.7142843_7142844insCTCTCCTCCC (hg19) chr17:g.7239524_7239525insCTCTCCTCCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7239525_7239534dup , CM000679.2:g.7239525_7239534dup GRCh38
NC_000017.10:g.7142844_7142853dup , CM000679.1:g.7142844_7142853dup GRCh37
NC_000017.9:g.7083568_7083577dup NCBI36
NG_033038.1:g.11_20dup

Transcript Alleles

HGVS Amino-acid change
ENST00000570899.1:c.46+52_46+61dup ENSP00000458416.1:n.46+52_46+61dup
XM_006721576.2:c.46+52_46+61dup XP_006721639.1:n.46+52_46+61dup
XM_024450938.1:c.46+52_46+61dup XP_024306706.1:n.46+52_46+61dup
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