Canonical Allele Identifier: CA2213428248

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635107_23635109delinsTTC , CM000678.2:g.23635107_23635109delinsTTC	GRCh38
NC_000016.9:g.23646428_23646430delinsTTC , CM000678.1:g.23646428_23646430delinsTTC	GRCh37
NC_000016.8:g.23553929_23553931delinsTTC	NCBI36
NG_007406.1:g.11249_11251delinsGAA , LRG_308:g.11249_11251delinsGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1443_1445delinsGAA	ENSP00000460666.3:p.Gln481=
ENST00000565038.2:c.211+2741_211+2743delinsGAA	ENSP00000459882.2:n.211+2741_211+2743delinsGAA
ENST00000566069.6:c.1437_1439delinsGAA	ENSP00000459237.2:p.Gln479=
ENST00000697377.2:c.1443_1445delinsGAA	ENSP00000513286.2:p.Gln481=
ENST00000697379.2:c.1443_1445delinsGAA	ENSP00000513287.2:p.Gln481=
ENST00000561514.2:c.552_554delinsGAA	ENSP00000460666.2:p.Gln184=
ENST00000697374.1:c.552_554delinsGAA	ENSP00000513284.1:p.Gln184=
ENST00000697375.1:n.2784_2786delinsGAA
ENST00000697376.1:c.552_554delinsGAA	ENSP00000513285.1:p.Gln184=
ENST00000697377.1:c.552_554delinsGAA	ENSP00000513286.1:p.Gln184=
ENST00000697378.1:n.1957_1959delinsGAA
ENST00000697379.1:c.552_554delinsGAA	ENSP00000513287.1:p.Gln184=
ENST00000697382.1:c.552_554delinsGAA	ENSP00000513288.1:p.Gln184=
ENST00000697383.1:c.49-5834_49-5832delinsGAA	ENSP00000513289.1:n.49-5834_49-5832delinsGAA
ENST00000697384.1:n.1591_1593delinsGAA
ENST00000261584.9:c.1437_1439delinsGAA MANE Select	ENSP00000261584.4:p.Gln479=
ENST00000261584.8:c.1437_1439delinsGAA	ENSP00000261584.4:p.Gln479=
ENST00000565038.1:c.86+2741_86+2743delinsGAA
ENST00000568219.5:c.552_554delinsGAA	ENSP00000454703.2:p.Gln184=
NM_024675.3:c.1437_1439delinsGAA , LRG_308t1:c.1437_1439delinsGAA	NP_078951.2:p.Gln479=
XM_011545946.1:c.1443_1445delinsGAA	XP_011544248.1:p.Gln481=
XM_011545947.1:c.1443_1445delinsGAA	XP_011544249.1:p.Gln481=
XM_011545948.1:c.552_554delinsGAA	XP_011544250.1:p.Gln184=
XR_950851.1:n.2233_2235delinsGAA
XM_011545946.2:c.1443_1445delinsGAA	XP_011544248.1:p.Gln481=
XM_011545947.2:c.1443_1445delinsGAA	XP_011544249.1:p.Gln481=
XM_011545948.2:c.552_554delinsGAA	XP_011544250.1:p.Gln184=
XM_017023671.1:c.1443_1445delinsGAA	XP_016879160.1:p.Gln481=
XM_017023672.2:c.1437_1439delinsGAA	XP_016879161.1:p.Gln479=
XM_017023673.2:c.1437_1439delinsGAA	XP_016879162.1:p.Gln479=
NM_024675.4:c.1437_1439delinsGAA MANE Select	NP_078951.2:p.Gln479=