Canonical Allele Identifier: CA981163393

Gene: PHF23

Linked Data

• gnomAD v3: 17-7239471-CCCTCCCCCCGCGCCGCCGGCCGCCTGCTCCCTCCTCCTCCTCCTCCACCTCCTCTCTCCTCCCTCCCTCCTCTTCTCTCCCT-C
• gnomAD v4: 17-7239471-CCCTCCCCCCGCGCCGCCGGCCGCCTGCTCCCTCCTCCTCCTCCTCCACCTCCTCTCTCCTCCCTCCCTCCTCTTCTCTCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7239483_7239564del , CM000679.2:g.7239483_7239564del	GRCh38
NC_000017.10:g.7142802_7142883del , CM000679.1:g.7142802_7142883del	GRCh37
NC_000017.9:g.7083526_7083607del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000570899.1:c.46+33_46+114del	ENSP00000458416.1:n.46+33_46+114del
XM_006721576.2:c.46+33_46+114del	XP_006721639.1:n.46+33_46+114del
XM_024450938.1:c.46+33_46+114del	XP_024306706.1:n.46+33_46+114del