Canonical Allele Identifier: CA2580092226
Community Standard Title: NM_001367624.2(ZNF469):c.2130_2132delinsCCG (p.Pro711Arg)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88429600_88429602delinsCCG , CM000678.2:g.88429600_88429602delinsCCG GRCh38
NC_000016.9:g.88496008_88496010delinsCCG , CM000678.1:g.88496008_88496010delinsCCG GRCh37
NC_000016.8:g.87023509_87023511delinsCCG NCBI36
NG_012236.2:g.7130_7132delinsCCG

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.2130_2132delinsCCG MANE Select NP_001354553.1:p.Pro711Arg
ENST00000565624.3:c.2130_2132delinsCCG MANE Select ENSP00000456500.2:p.Pro711Arg
NM_001127464.2:c.2130_2132delinsCCG NP_001120936.2:p.Pro711Arg
NM_001367624.1:c.2130_2132delinsCCG NP_001354553.1:p.Pro711Arg
ENST00000437464.1:c.2130_2132delinsCCG ENSP00000402343.1:p.Pro711Arg
ENST00000565624.1:c.2130_2132delinsCCG ENSP00000456500.1:p.Pro711Arg
XM_011523386.1:c.2130_2132delinsCCG XP_011521688.1:p.Pro711Arg
XM_011523387.1:c.2130_2132delinsCCG XP_011521689.1:p.Pro711Arg
XM_011523388.1:c.2130_2132delinsCCG XP_011521690.1:p.Pro711Arg
XM_017023784.1:c.2130_2132delinsCCG XP_016879273.1:p.Pro711Arg
XM_017023785.1:c.2130_2132delinsCCG XP_016879274.1:p.Pro711Arg
XR_002957934.1:n.250+362_250+364delinsCGG