Canonical Allele Identifier: CA624695943
Gene: PHF23 HGNC NCBI

Linked Data

dbSNP Id: rs1232552930
gnomAD v2: 17-7142847-T-TCCTC
gnomAD v3: 17-7239528-T-TCCTC
gnomAD v4: 17-7239528-T-TCCTC
MyVariant Identifiers: chr17:g.7142847_7142848insCCTC (hg19) chr17:g.7239528_7239529insCCTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7239538_7239541dup , CM000679.2:g.7239538_7239541dup GRCh38
NC_000017.10:g.7142857_7142860dup , CM000679.1:g.7142857_7142860dup GRCh37
NC_000017.9:g.7083581_7083584dup NCBI36
NG_033038.1:g.13_16dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000570899.1:c.46+54_46+57dup ENSP00000458416.1:n.46+54_46+57dup
XM_006721576.2:c.46+54_46+57dup XP_006721639.1:n.46+54_46+57dup
XM_024450938.1:c.46+54_46+57dup XP_024306706.1:n.46+54_46+57dup
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