Canonical Allele Identifier: CA2213431042

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635878_23635879delinsAT , CM000678.2:g.23635878_23635879delinsAT	GRCh38
NC_000016.9:g.23647199_23647200delinsAT , CM000678.1:g.23647199_23647200delinsAT	GRCh37
NC_000016.8:g.23554700_23554701delinsAT	NCBI36
NG_007406.1:g.10479_10480delinsAT , LRG_308:g.10479_10480delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.673_674delinsAT	ENSP00000460666.3:p.Ile225=
ENST00000565038.2:c.211+1971_211+1972delinsAT	ENSP00000459882.2:n.211+1971_211+1972delinsAT
ENST00000566069.6:c.667_668delinsAT	ENSP00000459237.2:p.Ile223=
ENST00000697377.2:c.673_674delinsAT	ENSP00000513286.2:p.Ile225=
ENST00000697379.2:c.673_674delinsAT	ENSP00000513287.2:p.Ile225=
ENST00000561514.2:c.-219_-218delinsAT	ENSP00000460666.2:n.-219_-218delinsAT
ENST00000697374.1:c.-219_-218delinsAT	ENSP00000513284.1:n.-219_-218delinsAT
ENST00000697375.1:n.2014_2015delinsAT
ENST00000697376.1:c.-219_-218delinsAT	ENSP00000513285.1:n.-219_-218delinsAT
ENST00000697377.1:c.-219_-218delinsAT	ENSP00000513286.1:n.-219_-218delinsAT
ENST00000697378.1:n.1187_1188delinsAT
ENST00000697379.1:c.-219_-218delinsAT	ENSP00000513287.1:n.-219_-218delinsAT
ENST00000697382.1:c.-219_-218delinsAT	ENSP00000513288.1:n.-219_-218delinsAT
ENST00000697383.1:c.48+5231_48+5232delinsAT	ENSP00000513289.1:n.48+5231_48+5232delinsAT
ENST00000697384.1:n.821_822delinsAT
ENST00000261584.9:c.667_668delinsAT MANE Select	ENSP00000261584.4:p.Ile223=
ENST00000261584.8:c.667_668delinsAT	ENSP00000261584.4:p.Ile223=
ENST00000565038.1:c.86+1971_86+1972delinsAT
ENST00000568219.5:c.-219_-218delinsAT	ENSP00000454703.2:n.-219_-218delinsAT
NM_024675.3:c.667_668delinsAT , LRG_308t1:c.667_668delinsAT	NP_078951.2:p.Ile223=
XM_011545946.1:c.673_674delinsAT	XP_011544248.1:p.Ile225=
XM_011545947.1:c.673_674delinsAT	XP_011544249.1:p.Ile225=
XM_011545948.1:c.-219_-218delinsAT	XP_011544250.1:n.-219_-218delinsAT
XR_950851.1:n.1463_1464delinsAT
XM_011545946.2:c.673_674delinsAT	XP_011544248.1:p.Ile225=
XM_011545947.2:c.673_674delinsAT	XP_011544249.1:p.Ile225=
XM_011545948.2:c.-219_-218delinsAT	XP_011544250.1:n.-219_-218delinsAT
XM_017023671.1:c.673_674delinsAT	XP_016879160.1:p.Ile225=
XM_017023672.2:c.667_668delinsAT	XP_016879161.1:p.Ile223=
XM_017023673.2:c.667_668delinsAT	XP_016879162.1:p.Ile223=
NM_024675.4:c.667_668delinsAT MANE Select	NP_078951.2:p.Ile223=