Canonical Allele Identifier: CA2213428070

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23634952_23634953delinsGC , CM000678.2:g.23634952_23634953delinsGC	GRCh38
NC_000016.9:g.23646273_23646274delinsGC , CM000678.1:g.23646273_23646274delinsGC	GRCh37
NC_000016.8:g.23553774_23553775delinsGC	NCBI36
NG_007406.1:g.11405_11406delinsGC , LRG_308:g.11405_11406delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1599_1600delinsGC	ENSP00000460666.3:p.Leu533=
ENST00000565038.2:c.211+2897_211+2898delinsGC	ENSP00000459882.2:n.211+2897_211+2898delinsGC
ENST00000566069.6:c.1593_1594delinsGC	ENSP00000459237.2:p.Leu531=
ENST00000697377.2:c.1599_1600delinsGC	ENSP00000513286.2:p.Leu533=
ENST00000697379.2:c.1599_1600delinsGC	ENSP00000513287.2:p.Leu533=
ENST00000561514.2:c.708_709delinsGC	ENSP00000460666.2:p.Leu236=
ENST00000697374.1:c.708_709delinsGC	ENSP00000513284.1:p.Leu236=
ENST00000697375.1:n.2940_2941delinsGC
ENST00000697376.1:c.708_709delinsGC	ENSP00000513285.1:p.Leu236=
ENST00000697377.1:c.708_709delinsGC	ENSP00000513286.1:p.Leu236=
ENST00000697378.1:n.2113_2114delinsGC
ENST00000697379.1:c.708_709delinsGC	ENSP00000513287.1:p.Leu236=
ENST00000697382.1:c.708_709delinsGC	ENSP00000513288.1:p.Leu236=
ENST00000697383.1:c.49-5678_49-5677delinsGC	ENSP00000513289.1:n.49-5678_49-5677delinsGC
ENST00000697384.1:n.1747_1748delinsGC
ENST00000261584.9:c.1593_1594delinsGC MANE Select	ENSP00000261584.4:p.Leu531=
ENST00000261584.8:c.1593_1594delinsGC	ENSP00000261584.4:p.Leu531=
ENST00000565038.1:c.86+2897_86+2898delinsGC
ENST00000568219.5:c.708_709delinsGC	ENSP00000454703.2:p.Leu236=
NM_024675.3:c.1593_1594delinsGC , LRG_308t1:c.1593_1594delinsGC	NP_078951.2:p.Leu531=
XM_011545946.1:c.1599_1600delinsGC	XP_011544248.1:p.Leu533=
XM_011545947.1:c.1599_1600delinsGC	XP_011544249.1:p.Leu533=
XM_011545948.1:c.708_709delinsGC	XP_011544250.1:p.Leu236=
XR_950851.1:n.2389_2390delinsGC
XM_011545946.2:c.1599_1600delinsGC	XP_011544248.1:p.Leu533=
XM_011545947.2:c.1599_1600delinsGC	XP_011544249.1:p.Leu533=
XM_011545948.2:c.708_709delinsGC	XP_011544250.1:p.Leu236=
XM_017023671.1:c.1599_1600delinsGC	XP_016879160.1:p.Leu533=
XM_017023672.2:c.1593_1594delinsGC	XP_016879161.1:p.Leu531=
XM_017023673.2:c.1593_1594delinsGC	XP_016879162.1:p.Leu531=
NM_024675.4:c.1593_1594delinsGC MANE Select	NP_078951.2:p.Leu531=