Canonical Allele Identifier: CA2213423540
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630101_23630102delinsTG , CM000678.2:g.23630101_23630102delinsTG GRCh38
NC_000016.9:g.23641422_23641423delinsTG , CM000678.1:g.23641422_23641423delinsTG GRCh37
NC_000016.8:g.23548923_23548924delinsTG NCBI36
NG_007406.1:g.16256_16257delinsCA , LRG_308:g.16256_16257delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2058_2059delinsCA ENSP00000460666.3:p.Pro686=
ENST00000565038.2:c.212-827_212-826delinsCA ENSP00000459882.2:n.212-827_212-826delinsCA
ENST00000566069.6:c.2052_2053delinsCA ENSP00000459237.2:p.Pro684=
ENST00000697377.2:c.2058_2059delinsCA ENSP00000513286.2:p.Pro686=
ENST00000697379.2:c.2058_2059delinsCA ENSP00000513287.2:p.Pro686=
ENST00000561514.2:c.1167_1168delinsCA ENSP00000460666.2:p.Pro389=
ENST00000697374.1:c.1167_1168delinsCA ENSP00000513284.1:p.Pro389=
ENST00000697375.1:n.3399_3400delinsCA
ENST00000697376.1:c.1167_1168delinsCA ENSP00000513285.1:p.Pro389=
ENST00000697377.1:c.1167_1168delinsCA ENSP00000513286.1:p.Pro389=
ENST00000697378.1:n.2572_2573delinsCA
ENST00000697379.1:c.1167_1168delinsCA ENSP00000513287.1:p.Pro389=
ENST00000697380.1:n.980_981delinsCA
ENST00000697381.1:n.747_748delinsCA
ENST00000697382.1:c.1167_1168delinsCA ENSP00000513288.1:p.Pro389=
ENST00000697383.1:c.49-827_49-826delinsCA ENSP00000513289.1:n.49-827_49-826delinsCA
ENST00000697384.1:n.2206_2207delinsCA
ENST00000261584.9:c.2052_2053delinsCA MANE Select ENSP00000261584.4:p.Pro684=
ENST00000261584.8:c.2052_2053delinsCA ENSP00000261584.4:p.Pro684=
ENST00000565038.1:c.87-827_87-826delinsCA
ENST00000568219.5:c.1167_1168delinsCA ENSP00000454703.2:p.Pro389=
NM_024675.3:c.2052_2053delinsCA , LRG_308t1:c.2052_2053delinsCA NP_078951.2:p.Pro684=
XM_011545946.1:c.2058_2059delinsCA XP_011544248.1:p.Pro686=
XM_011545947.1:c.2058_2059delinsCA XP_011544249.1:p.Pro686=
XM_011545948.1:c.1167_1168delinsCA XP_011544250.1:p.Pro389=
XR_950851.1:n.2848_2849delinsCA
XM_011545946.2:c.2058_2059delinsCA XP_011544248.1:p.Pro686=
XM_011545947.2:c.2058_2059delinsCA XP_011544249.1:p.Pro686=
XM_011545948.2:c.1167_1168delinsCA XP_011544250.1:p.Pro389=
XM_017023671.1:c.2058_2059delinsCA XP_016879160.1:p.Pro686=
XM_017023672.2:c.2052_2053delinsCA XP_016879161.1:p.Pro684=
XM_017023673.2:c.2052_2053delinsCA XP_016879162.1:p.Pro684=
NM_024675.4:c.2052_2053delinsCA MANE Select NP_078951.2:p.Pro684=