Canonical Allele Identifier: CA2213424279
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630279_23630285delinsTTCAAGC , CM000678.2:g.23630279_23630285delinsTTCAAGC GRCh38
NC_000016.9:g.23641600_23641606delinsTTCAAGC , CM000678.1:g.23641600_23641606delinsTTCAAGC GRCh37
NC_000016.8:g.23549101_23549107delinsTTCAAGC NCBI36
NG_007406.1:g.16073_16079delinsGCTTGAA , LRG_308:g.16073_16079delinsGCTTGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1875_1881delinsGCTTGAA ENSP00000460666.3:p.Lys625=
ENST00000565038.2:c.212-1010_212-1004delinsGCTTGAA ENSP00000459882.2:n.212-1010_212-1004delinsGCTTGAA
ENST00000566069.6:c.1869_1875delinsGCTTGAA ENSP00000459237.2:p.Lys623=
ENST00000697377.2:c.1875_1881delinsGCTTGAA ENSP00000513286.2:p.Lys625=
ENST00000697379.2:c.1875_1881delinsGCTTGAA ENSP00000513287.2:p.Lys625=
ENST00000561514.2:c.984_990delinsGCTTGAA ENSP00000460666.2:p.Lys328=
ENST00000697374.1:c.984_990delinsGCTTGAA ENSP00000513284.1:p.Lys328=
ENST00000697375.1:n.3216_3222delinsGCTTGAA
ENST00000697376.1:c.984_990delinsGCTTGAA ENSP00000513285.1:p.Lys328=
ENST00000697377.1:c.984_990delinsGCTTGAA ENSP00000513286.1:p.Lys328=
ENST00000697378.1:n.2389_2395delinsGCTTGAA
ENST00000697379.1:c.984_990delinsGCTTGAA ENSP00000513287.1:p.Lys328=
ENST00000697380.1:n.797_803delinsGCTTGAA
ENST00000697381.1:n.564_570delinsGCTTGAA
ENST00000697382.1:c.984_990delinsGCTTGAA ENSP00000513288.1:p.Lys328=
ENST00000697383.1:c.49-1010_49-1004delinsGCTTGAA ENSP00000513289.1:n.49-1010_49-1004delinsGCTTGAA
ENST00000697384.1:n.2023_2029delinsGCTTGAA
ENST00000261584.9:c.1869_1875delinsGCTTGAA MANE Select ENSP00000261584.4:p.Lys623=
ENST00000261584.8:c.1869_1875delinsGCTTGAA ENSP00000261584.4:p.Lys623=
ENST00000565038.1:c.87-1010_87-1004delinsGCTTGAA
ENST00000568219.5:c.984_990delinsGCTTGAA ENSP00000454703.2:p.Lys328=
NM_024675.3:c.1869_1875delinsGCTTGAA , LRG_308t1:c.1869_1875delinsGCTTGAA NP_078951.2:p.Lys623=
XM_011545946.1:c.1875_1881delinsGCTTGAA XP_011544248.1:p.Lys625=
XM_011545947.1:c.1875_1881delinsGCTTGAA XP_011544249.1:p.Lys625=
XM_011545948.1:c.984_990delinsGCTTGAA XP_011544250.1:p.Lys328=
XR_950851.1:n.2665_2671delinsGCTTGAA
XM_011545946.2:c.1875_1881delinsGCTTGAA XP_011544248.1:p.Lys625=
XM_011545947.2:c.1875_1881delinsGCTTGAA XP_011544249.1:p.Lys625=
XM_011545948.2:c.984_990delinsGCTTGAA XP_011544250.1:p.Lys328=
XM_017023671.1:c.1875_1881delinsGCTTGAA XP_016879160.1:p.Lys625=
XM_017023672.2:c.1869_1875delinsGCTTGAA XP_016879161.1:p.Lys623=
XM_017023673.2:c.1869_1875delinsGCTTGAA XP_016879162.1:p.Lys623=
NM_024675.4:c.1869_1875delinsGCTTGAA MANE Select NP_078951.2:p.Lys623=