Canonical Allele Identifier: CA2213424357

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630342_23630345delinsCAGT , CM000678.2:g.23630342_23630345delinsCAGT	GRCh38
NC_000016.9:g.23641663_23641666delinsCAGT , CM000678.1:g.23641663_23641666delinsCAGT	GRCh37
NC_000016.8:g.23549164_23549167delinsCAGT	NCBI36
NG_007406.1:g.16013_16016delinsACTG , LRG_308:g.16013_16016delinsACTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1815_1818delinsACTG	ENSP00000460666.3:p.Leu605=
ENST00000565038.2:c.212-1070_212-1067delinsACTG	ENSP00000459882.2:n.212-1070_212-1067deli...
ENST00000566069.6:c.1809_1812delinsACTG	ENSP00000459237.2:p.Leu603=
ENST00000697377.2:c.1815_1818delinsACTG	ENSP00000513286.2:p.Leu605=
ENST00000697379.2:c.1815_1818delinsACTG	ENSP00000513287.2:p.Leu605=
ENST00000561514.2:c.924_927delinsACTG	ENSP00000460666.2:p.Leu308=
ENST00000697374.1:c.924_927delinsACTG	ENSP00000513284.1:p.Leu308=
ENST00000697375.1:n.3156_3159delinsACTG
ENST00000697376.1:c.924_927delinsACTG	ENSP00000513285.1:p.Leu308=
ENST00000697377.1:c.924_927delinsACTG	ENSP00000513286.1:p.Leu308=
ENST00000697378.1:n.2329_2332delinsACTG
ENST00000697379.1:c.924_927delinsACTG	ENSP00000513287.1:p.Leu308=
ENST00000697380.1:n.737_740delinsACTG
ENST00000697381.1:n.504_507delinsACTG
ENST00000697382.1:c.924_927delinsACTG	ENSP00000513288.1:p.Leu308=
ENST00000697383.1:c.49-1070_49-1067delinsACTG	ENSP00000513289.1:n.49-1070_49-1067delins...
ENST00000697384.1:n.1963_1966delinsACTG
ENST00000261584.9:c.1809_1812delinsACTG MANE Select	ENSP00000261584.4:p.Leu603=
ENST00000261584.8:c.1809_1812delinsACTG	ENSP00000261584.4:p.Leu603=
ENST00000565038.1:c.87-1070_87-1067delinsACTG
ENST00000568219.5:c.924_927delinsACTG	ENSP00000454703.2:p.Leu308=
NM_024675.3:c.1809_1812delinsACTG , LRG_308t1:c.1809_1812delinsACTG	NP_078951.2:p.Leu603=
XM_011545946.1:c.1815_1818delinsACTG	XP_011544248.1:p.Leu605=
XM_011545947.1:c.1815_1818delinsACTG	XP_011544249.1:p.Leu605=
XM_011545948.1:c.924_927delinsACTG	XP_011544250.1:p.Leu308=
XR_950851.1:n.2605_2608delinsACTG
XM_011545946.2:c.1815_1818delinsACTG	XP_011544248.1:p.Leu605=
XM_011545947.2:c.1815_1818delinsACTG	XP_011544249.1:p.Leu605=
XM_011545948.2:c.924_927delinsACTG	XP_011544250.1:p.Leu308=
XM_017023671.1:c.1815_1818delinsACTG	XP_016879160.1:p.Leu605=
XM_017023672.2:c.1809_1812delinsACTG	XP_016879161.1:p.Leu603=
XM_017023673.2:c.1809_1812delinsACTG	XP_016879162.1:p.Leu603=
NM_024675.4:c.1809_1812delinsACTG MANE Select	NP_078951.2:p.Leu603=