Canonical Allele Identifier: CA2213412222
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23622989_23622991delinsCAT , CM000678.2:g.23622989_23622991delinsCAT GRCh38
NC_000016.9:g.23634310_23634312delinsCAT , CM000678.1:g.23634310_23634312delinsCAT GRCh37
NC_000016.8:g.23541811_23541813delinsCAT NCBI36
NG_007406.1:g.23367_23369delinsATG , LRG_308:g.23367_23369delinsATG

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2980_2982delinsATG ENSP00000460666.3:p.Met994=
ENST00000565038.2:c.*455_*457delinsATG ENSP00000459882.2:n.*455_*457delinsATG
ENST00000566069.6:c.2974_2976delinsATG ENSP00000459237.2:p.Met992=
ENST00000697377.2:c.2818_2820delinsATG ENSP00000513286.2:p.Met940=
ENST00000697379.2:c.2980_2982delinsATG ENSP00000513287.2:p.Met994=
ENST00000561514.2:c.2089_2091delinsATG ENSP00000460666.2:p.Met697=
ENST00000697374.1:c.2089_2091delinsATG ENSP00000513284.1:p.Met697=
ENST00000697375.1:n.4321_4323delinsATG
ENST00000697376.1:c.2089_2091delinsATG ENSP00000513285.1:p.Met697=
ENST00000697377.1:c.1927_1929delinsATG ENSP00000513286.1:p.Met643=
ENST00000697378.1:n.3494_3496delinsATG
ENST00000697379.1:c.2089_2091delinsATG ENSP00000513287.1:p.Met697=
ENST00000697380.1:n.2266_2268delinsATG
ENST00000697381.1:n.1669_1671delinsATG
ENST00000697382.1:c.2089_2091delinsATG ENSP00000513288.1:p.Met697=
ENST00000697383.1:c.508_510delinsATG ENSP00000513289.1:p.Met170=
ENST00000261584.9:c.2974_2976delinsATG MANE Select ENSP00000261584.4:p.Met992=
ENST00000261584.8:c.2974_2976delinsATG ENSP00000261584.4:p.Met992=
ENST00000568219.5:c.2089_2091delinsATG ENSP00000454703.2:p.Met697=
NM_024675.3:c.2974_2976delinsATG , LRG_308t1:c.2974_2976delinsATG NP_078951.2:p.Met992=
XM_011545946.1:c.2980_2982delinsATG XP_011544248.1:p.Met994=
XM_011545947.1:c.2980_2982delinsATG XP_011544249.1:p.Met994=
XM_011545948.1:c.2089_2091delinsATG XP_011544250.1:p.Met697=
XR_950851.1:n.3770_3772delinsATG
XM_011545946.2:c.2980_2982delinsATG XP_011544248.1:p.Met994=
XM_011545947.2:c.2980_2982delinsATG XP_011544249.1:p.Met994=
XM_011545948.2:c.2089_2091delinsATG XP_011544250.1:p.Met697=
XM_017023671.1:c.2980_2982delinsATG XP_016879160.1:p.Met994=
XM_017023672.2:c.2974_2976delinsATG XP_016879161.1:p.Met992=
XM_017023673.2:c.2974_2976delinsATG XP_016879162.1:p.Met992=
NM_024675.4:c.2974_2976delinsATG MANE Select NP_078951.2:p.Met992=