Canonical Allele Identifier: CA10605843
Community Standard Title: NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88428195_88428196delinsTT , CM000678.2:g.88428195_88428196delinsTT GRCh38
NC_000016.9:g.88494603_88494604delinsTT , CM000678.1:g.88494603_88494604delinsTT GRCh37
NC_000016.8:g.87022104_87022105delinsTT NCBI36
NG_012236.2:g.5725_5726delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.725_726delinsTT MANE Select NP_001354553.1:p.Ser242Ile
ENST00000565624.3:c.725_726delinsTT MANE Select ENSP00000456500.2:p.Ser242Ile
NM_001127464.2:c.725_726delinsTT NP_001120936.2:p.Ser242Ile
NM_001367624.1:c.725_726delinsTT NP_001354553.1:p.Ser242Ile
ENST00000437464.1:c.725_726delinsTT ENSP00000402343.1:p.Ser242Ile
ENST00000565624.1:c.725_726delinsTT ENSP00000456500.1:p.Ser242Ile
XM_011523386.1:c.725_726delinsTT XP_011521688.1:p.Ser242Ile
XM_011523387.1:c.725_726delinsTT XP_011521689.1:p.Ser242Ile
XM_011523388.1:c.725_726delinsTT XP_011521690.1:p.Ser242Ile
XM_017023784.1:c.725_726delinsTT XP_016879273.1:p.Ser242Ile
XM_017023785.1:c.725_726delinsTT XP_016879274.1:p.Ser242Ile
XR_002957934.1:n.250+1768_250+1769delinsAA