Canonical Allele Identifier: CA2213424350
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630335_23630337delinsGAA , CM000678.2:g.23630335_23630337delinsGAA GRCh38
NC_000016.9:g.23641656_23641658delinsGAA , CM000678.1:g.23641656_23641658delinsGAA GRCh37
NC_000016.8:g.23549157_23549159delinsGAA NCBI36
NG_007406.1:g.16021_16023delinsTTC , LRG_308:g.16021_16023delinsTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1823_1825delinsTTC ENSP00000460666.3:p.Phe608=
ENST00000565038.2:c.212-1062_212-1060delinsTTC ENSP00000459882.2:n.212-1062_212-1060delinsTTC
ENST00000566069.6:c.1817_1819delinsTTC ENSP00000459237.2:p.Phe606=
ENST00000697377.2:c.1823_1825delinsTTC ENSP00000513286.2:p.Phe608=
ENST00000697379.2:c.1823_1825delinsTTC ENSP00000513287.2:p.Phe608=
ENST00000561514.2:c.932_934delinsTTC ENSP00000460666.2:p.Phe311=
ENST00000697374.1:c.932_934delinsTTC ENSP00000513284.1:p.Phe311=
ENST00000697375.1:n.3164_3166delinsTTC
ENST00000697376.1:c.932_934delinsTTC ENSP00000513285.1:p.Phe311=
ENST00000697377.1:c.932_934delinsTTC ENSP00000513286.1:p.Phe311=
ENST00000697378.1:n.2337_2339delinsTTC
ENST00000697379.1:c.932_934delinsTTC ENSP00000513287.1:p.Phe311=
ENST00000697380.1:n.745_747delinsTTC
ENST00000697381.1:n.512_514delinsTTC
ENST00000697382.1:c.932_934delinsTTC ENSP00000513288.1:p.Phe311=
ENST00000697383.1:c.49-1062_49-1060delinsTTC ENSP00000513289.1:n.49-1062_49-1060delinsTTC
ENST00000697384.1:n.1971_1973delinsTTC
ENST00000261584.9:c.1817_1819delinsTTC MANE Select ENSP00000261584.4:p.Phe606=
ENST00000261584.8:c.1817_1819delinsTTC ENSP00000261584.4:p.Phe606=
ENST00000565038.1:c.87-1062_87-1060delinsTTC
ENST00000568219.5:c.932_934delinsTTC ENSP00000454703.2:p.Phe311=
NM_024675.3:c.1817_1819delinsTTC , LRG_308t1:c.1817_1819delinsTTC NP_078951.2:p.Phe606=
XM_011545946.1:c.1823_1825delinsTTC XP_011544248.1:p.Phe608=
XM_011545947.1:c.1823_1825delinsTTC XP_011544249.1:p.Phe608=
XM_011545948.1:c.932_934delinsTTC XP_011544250.1:p.Phe311=
XR_950851.1:n.2613_2615delinsTTC
XM_011545946.2:c.1823_1825delinsTTC XP_011544248.1:p.Phe608=
XM_011545947.2:c.1823_1825delinsTTC XP_011544249.1:p.Phe608=
XM_011545948.2:c.932_934delinsTTC XP_011544250.1:p.Phe311=
XM_017023671.1:c.1823_1825delinsTTC XP_016879160.1:p.Phe608=
XM_017023672.2:c.1817_1819delinsTTC XP_016879161.1:p.Phe606=
XM_017023673.2:c.1817_1819delinsTTC XP_016879162.1:p.Phe606=
NM_024675.4:c.1817_1819delinsTTC MANE Select NP_078951.2:p.Phe606=