Canonical Allele Identifier: CA981163456

Gene: PHF23

Linked Data

• gnomAD v3: 17-7239518-ACCTCCTCTCTCCTCCCTCCCTCCTCTTCTCTCCCTCCTCCCCCCG-A
• gnomAD v4: 17-7239518-ACCTCCTCTCTCCTCCCTCCCTCCTCTTCTCTCCCTCCTCCCCCCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7239521_7239565del , CM000679.2:g.7239521_7239565del	GRCh38
NC_000017.10:g.7142840_7142884del , CM000679.1:g.7142840_7142884del	GRCh37
NC_000017.9:g.7083564_7083608del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000570899.1:c.46+23_46+67del	ENSP00000458416.1:n.46+23_46+67del
XM_006721576.2:c.46+23_46+67del	XP_006721639.1:n.46+23_46+67del
XM_024450938.1:c.46+23_46+67del	XP_024306706.1:n.46+23_46+67del