Canonical Allele Identifier: CA2213418090
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23626348_23626350delinsCTT , CM000678.2:g.23626348_23626350delinsCTT GRCh38
NC_000016.9:g.23637669_23637671delinsCTT , CM000678.1:g.23637669_23637671delinsCTT GRCh37
NC_000016.8:g.23545170_23545172delinsCTT NCBI36
NG_007406.1:g.20008_20010delinsAAG , LRG_308:g.20008_20010delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2640_2642delinsAAG ENSP00000460666.3:p.Glu880=
ENST00000565038.2:c.*115_*117delinsAAG ENSP00000459882.2:n.*115_*117delinsAAG
ENST00000566069.6:c.2634_2636delinsAAG ENSP00000459237.2:p.Glu878=
ENST00000697377.2:c.2593-2256_2593-2254delinsAAG ENSP00000513286.2:n.2593-2256_2593-2254delinsAAG
ENST00000697379.2:c.2640_2642delinsAAG ENSP00000513287.2:p.Glu880=
ENST00000561514.2:c.1749_1751delinsAAG ENSP00000460666.2:p.Glu583=
ENST00000697374.1:c.1749_1751delinsAAG ENSP00000513284.1:p.Glu583=
ENST00000697375.1:n.3981_3983delinsAAG
ENST00000697376.1:c.1749_1751delinsAAG ENSP00000513285.1:p.Glu583=
ENST00000697377.1:c.1702-2256_1702-2254delinsAAG ENSP00000513286.1:n.1702-2256_1702-2254delinsAAG
ENST00000697378.1:n.3154_3156delinsAAG
ENST00000697379.1:c.1749_1751delinsAAG ENSP00000513287.1:p.Glu583=
ENST00000697380.1:n.1926_1928delinsAAG
ENST00000697381.1:n.1329_1331delinsAAG
ENST00000697382.1:c.1749_1751delinsAAG ENSP00000513288.1:p.Glu583=
ENST00000697383.1:c.168_170delinsAAG ENSP00000513289.1:p.Glu56=
ENST00000261584.9:c.2634_2636delinsAAG MANE Select ENSP00000261584.4:p.Glu878=
ENST00000261584.8:c.2634_2636delinsAAG ENSP00000261584.4:p.Glu878=
ENST00000565038.1:c.206_208delinsAAG
ENST00000568219.5:c.1749_1751delinsAAG ENSP00000454703.2:p.Glu583=
NM_024675.3:c.2634_2636delinsAAG , LRG_308t1:c.2634_2636delinsAAG NP_078951.2:p.Glu878=
XM_011545946.1:c.2640_2642delinsAAG XP_011544248.1:p.Glu880=
XM_011545947.1:c.2640_2642delinsAAG XP_011544249.1:p.Glu880=
XM_011545948.1:c.1749_1751delinsAAG XP_011544250.1:p.Glu583=
XR_950851.1:n.3430_3432delinsAAG
XM_011545946.2:c.2640_2642delinsAAG XP_011544248.1:p.Glu880=
XM_011545947.2:c.2640_2642delinsAAG XP_011544249.1:p.Glu880=
XM_011545948.2:c.1749_1751delinsAAG XP_011544250.1:p.Glu583=
XM_017023671.1:c.2640_2642delinsAAG XP_016879160.1:p.Glu880=
XM_017023672.2:c.2634_2636delinsAAG XP_016879161.1:p.Glu878=
XM_017023673.2:c.2634_2636delinsAAG XP_016879162.1:p.Glu878=
NM_024675.4:c.2634_2636delinsAAG MANE Select NP_078951.2:p.Glu878=