Canonical Allele Identifier: CA2245719654

Gene: PHF23

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7239526_7239540delinsTCTCCTCCCTCCCTC , CM000679.2:g.7239526_7239540delinsTCTCCTCCCTCCCTC	GRCh38
NC_000017.10:g.7142845_7142859delinsTCTCCTCCCTCCCTC , CM000679.1:g.7142845_7142859delinsTCTCCTCCCTCCCTC	GRCh37
NC_000017.9:g.7083569_7083583delinsTCTCCTCCCTCCCTC	NCBI36
NG_033038.1:g.5_19delinsGAGGGAGGGAGGAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000570899.1:c.46+46_46+60delinsGAGGGAGGGAGGAGA	ENSP00000458416.1:n.46+46_46+60delinsGAGGGAGGGAGGAGA
XM_006721576.2:c.46+46_46+60delinsGAGGGAGGGAGGAGA	XP_006721639.1:n.46+46_46+60delinsGAGGGAGGGAGGAGA
XM_024450938.1:c.46+46_46+60delinsGAGGGAGGGAGGAGA	XP_024306706.1:n.46+46_46+60delinsGAGGGAGGGAGGAGA