Canonical Allele Identifier: CA2213429483

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635503_23635504delinsTG , CM000678.2:g.23635503_23635504delinsTG	GRCh38
NC_000016.9:g.23646824_23646825delinsTG , CM000678.1:g.23646824_23646825delinsTG	GRCh37
NC_000016.8:g.23554325_23554326delinsTG	NCBI36
NG_007406.1:g.10854_10855delinsCA , LRG_308:g.10854_10855delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1048_1049delinsCA	ENSP00000460666.3:p.Gln350=
ENST00000565038.2:c.211+2346_211+2347delinsCA	ENSP00000459882.2:n.211+2346_211+2347delinsCA
ENST00000566069.6:c.1042_1043delinsCA	ENSP00000459237.2:p.Gln348=
ENST00000697377.2:c.1048_1049delinsCA	ENSP00000513286.2:p.Gln350=
ENST00000697379.2:c.1048_1049delinsCA	ENSP00000513287.2:p.Gln350=
ENST00000561514.2:c.157_158delinsCA	ENSP00000460666.2:p.Gln53=
ENST00000697374.1:c.157_158delinsCA	ENSP00000513284.1:p.Gln53=
ENST00000697375.1:n.2389_2390delinsCA
ENST00000697376.1:c.157_158delinsCA	ENSP00000513285.1:p.Gln53=
ENST00000697377.1:c.157_158delinsCA	ENSP00000513286.1:p.Gln53=
ENST00000697378.1:n.1562_1563delinsCA
ENST00000697379.1:c.157_158delinsCA	ENSP00000513287.1:p.Gln53=
ENST00000697382.1:c.157_158delinsCA	ENSP00000513288.1:p.Gln53=
ENST00000697383.1:c.48+5606_48+5607delinsCA	ENSP00000513289.1:n.48+5606_48+5607delinsCA
ENST00000697384.1:n.1196_1197delinsCA
ENST00000261584.9:c.1042_1043delinsCA MANE Select	ENSP00000261584.4:p.Gln348=
ENST00000261584.8:c.1042_1043delinsCA	ENSP00000261584.4:p.Gln348=
ENST00000565038.1:c.86+2346_86+2347delinsCA
ENST00000568219.5:c.157_158delinsCA	ENSP00000454703.2:p.Gln53=
NM_024675.3:c.1042_1043delinsCA , LRG_308t1:c.1042_1043delinsCA	NP_078951.2:p.Gln348=
XM_011545946.1:c.1048_1049delinsCA	XP_011544248.1:p.Gln350=
XM_011545947.1:c.1048_1049delinsCA	XP_011544249.1:p.Gln350=
XM_011545948.1:c.157_158delinsCA	XP_011544250.1:p.Gln53=
XR_950851.1:n.1838_1839delinsCA
XM_011545946.2:c.1048_1049delinsCA	XP_011544248.1:p.Gln350=
XM_011545947.2:c.1048_1049delinsCA	XP_011544249.1:p.Gln350=
XM_011545948.2:c.157_158delinsCA	XP_011544250.1:p.Gln53=
XM_017023671.1:c.1048_1049delinsCA	XP_016879160.1:p.Gln350=
XM_017023672.2:c.1042_1043delinsCA	XP_016879161.1:p.Gln348=
XM_017023673.2:c.1042_1043delinsCA	XP_016879162.1:p.Gln348=
NM_024675.4:c.1042_1043delinsCA MANE Select	NP_078951.2:p.Gln348=