Canonical Allele Identifier: CA2695222955

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635098_23635102del , CM000678.2:g.23635098_23635102del	GRCh38
NC_000016.9:g.23646419_23646423del , CM000678.1:g.23646419_23646423del	GRCh37
NC_000016.8:g.23553920_23553924del	NCBI36
NG_007406.1:g.11256_11260del , LRG_308:g.11256_11260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1450_1454del	ENSP00000460666.3:p.Leu484IlefsTer3
ENST00000565038.2:c.211+2748_211+2752del	ENSP00000459882.2:n.211+2748_211+2752del
ENST00000566069.6:c.1444_1448del	ENSP00000459237.2:p.Leu482IlefsTer3
ENST00000697377.2:c.1450_1454del	ENSP00000513286.2:p.Leu484IlefsTer3
ENST00000697379.2:c.1450_1454del	ENSP00000513287.2:p.Leu484IlefsTer3
ENST00000561514.2:c.559_563del	ENSP00000460666.2:p.Leu187IlefsTer3
ENST00000697374.1:c.559_563del	ENSP00000513284.1:p.Leu187IlefsTer3
ENST00000697375.1:n.2791_2795del
ENST00000697376.1:c.559_563del	ENSP00000513285.1:p.Leu187IlefsTer3
ENST00000697377.1:c.559_563del	ENSP00000513286.1:p.Leu187IlefsTer3
ENST00000697378.1:n.1964_1968del
ENST00000697379.1:c.559_563del	ENSP00000513287.1:p.Leu187IlefsTer3
ENST00000697382.1:c.559_563del	ENSP00000513288.1:p.Leu187IlefsTer3
ENST00000697383.1:c.49-5827_49-5823del	ENSP00000513289.1:n.49-5827_49-5823del
ENST00000697384.1:n.1598_1602del
ENST00000261584.9:c.1444_1448del MANE Select	ENSP00000261584.4:p.Leu482IlefsTer3
ENST00000261584.8:c.1444_1448del	ENSP00000261584.4:p.Leu482IlefsTer3
ENST00000565038.1:c.86+2748_86+2752del
ENST00000568219.5:c.559_563del	ENSP00000454703.2:p.Leu187IlefsTer3
NM_024675.3:c.1444_1448del , LRG_308t1:c.1444_1448del	NP_078951.2:p.Leu482IlefsTer3
XM_011545946.1:c.1450_1454del	XP_011544248.1:p.Leu484IlefsTer3
XM_011545947.1:c.1450_1454del	XP_011544249.1:p.Leu484IlefsTer3
XM_011545948.1:c.559_563del	XP_011544250.1:p.Leu187IlefsTer3
XR_950851.1:n.2240_2244del
XM_011545946.2:c.1450_1454del	XP_011544248.1:p.Leu484IlefsTer3
XM_011545947.2:c.1450_1454del	XP_011544249.1:p.Leu484IlefsTer3
XM_011545948.2:c.559_563del	XP_011544250.1:p.Leu187IlefsTer3
XM_017023671.1:c.1450_1454del	XP_016879160.1:p.Leu484IlefsTer3
XM_017023672.2:c.1444_1448del	XP_016879161.1:p.Leu482IlefsTer3
XM_017023673.2:c.1444_1448del	XP_016879162.1:p.Leu482IlefsTer3
NM_024675.4:c.1444_1448del MANE Select	NP_078951.2:p.Leu482IlefsTer3