Canonical Allele Identifier: CA2635788344

Gene: PHF23

Linked Data

• gnomAD v4: 17-7239468-GCCCCCTCCCCCCGCGCCGCCGGCCGCCTGCTCCCTCCTCCTCCTCCTCCACCTCCTCTCTCCTCCCTCCCTCCTCTTCTCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7239471_7239552del , CM000679.2:g.7239471_7239552del	GRCh38
NC_000017.10:g.7142790_7142871del , CM000679.1:g.7142790_7142871del	GRCh37
NC_000017.9:g.7083514_7083595del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570899.1:c.46+36_46+117del	ENSP00000458416.1:n.46+36_46+117del
XM_006721576.2:c.46+36_46+117del	XP_006721639.1:n.46+36_46+117del
XM_024450938.1:c.46+36_46+117del	XP_024306706.1:n.46+36_46+117del