Canonical Allele Identifier: CA2213424281
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630280_23630281delinsTC , CM000678.2:g.23630280_23630281delinsTC GRCh38
NC_000016.9:g.23641601_23641602delinsTC , CM000678.1:g.23641601_23641602delinsTC GRCh37
NC_000016.8:g.23549102_23549103delinsTC NCBI36
NG_007406.1:g.16077_16078delinsGA , LRG_308:g.16077_16078delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1879_1880delinsGA ENSP00000460666.3:p.Glu627=
ENST00000565038.2:c.212-1006_212-1005delinsGA ENSP00000459882.2:n.212-1006_212-1005delinsGA
ENST00000566069.6:c.1873_1874delinsGA ENSP00000459237.2:p.Glu625=
ENST00000697377.2:c.1879_1880delinsGA ENSP00000513286.2:p.Glu627=
ENST00000697379.2:c.1879_1880delinsGA ENSP00000513287.2:p.Glu627=
ENST00000561514.2:c.988_989delinsGA ENSP00000460666.2:p.Glu330=
ENST00000697374.1:c.988_989delinsGA ENSP00000513284.1:p.Glu330=
ENST00000697375.1:n.3220_3221delinsGA
ENST00000697376.1:c.988_989delinsGA ENSP00000513285.1:p.Glu330=
ENST00000697377.1:c.988_989delinsGA ENSP00000513286.1:p.Glu330=
ENST00000697378.1:n.2393_2394delinsGA
ENST00000697379.1:c.988_989delinsGA ENSP00000513287.1:p.Glu330=
ENST00000697380.1:n.801_802delinsGA
ENST00000697381.1:n.568_569delinsGA
ENST00000697382.1:c.988_989delinsGA ENSP00000513288.1:p.Glu330=
ENST00000697383.1:c.49-1006_49-1005delinsGA ENSP00000513289.1:n.49-1006_49-1005delinsGA
ENST00000697384.1:n.2027_2028delinsGA
ENST00000261584.9:c.1873_1874delinsGA MANE Select ENSP00000261584.4:p.Glu625=
ENST00000261584.8:c.1873_1874delinsGA ENSP00000261584.4:p.Glu625=
ENST00000565038.1:c.87-1006_87-1005delinsGA
ENST00000568219.5:c.988_989delinsGA ENSP00000454703.2:p.Glu330=
NM_024675.3:c.1873_1874delinsGA , LRG_308t1:c.1873_1874delinsGA NP_078951.2:p.Glu625=
XM_011545946.1:c.1879_1880delinsGA XP_011544248.1:p.Glu627=
XM_011545947.1:c.1879_1880delinsGA XP_011544249.1:p.Glu627=
XM_011545948.1:c.988_989delinsGA XP_011544250.1:p.Glu330=
XR_950851.1:n.2669_2670delinsGA
XM_011545946.2:c.1879_1880delinsGA XP_011544248.1:p.Glu627=
XM_011545947.2:c.1879_1880delinsGA XP_011544249.1:p.Glu627=
XM_011545948.2:c.988_989delinsGA XP_011544250.1:p.Glu330=
XM_017023671.1:c.1879_1880delinsGA XP_016879160.1:p.Glu627=
XM_017023672.2:c.1873_1874delinsGA XP_016879161.1:p.Glu625=
XM_017023673.2:c.1873_1874delinsGA XP_016879162.1:p.Glu625=
NM_024675.4:c.1873_1874delinsGA MANE Select NP_078951.2:p.Glu625=