Canonical Allele Identifier: CA2213428111

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635075_23635078delinsCGGG , CM000678.2:g.23635075_23635078delinsCGGG	GRCh38
NC_000016.9:g.23646396_23646399delinsCGGG , CM000678.1:g.23646396_23646399delinsCGGG	GRCh37
NC_000016.8:g.23553897_23553900delinsCGGG	NCBI36
NG_007406.1:g.11280_11283delinsCCCG , LRG_308:g.11280_11283delinsCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1474_1477delinsCCCG	ENSP00000460666.3:p.Pro492=
ENST00000565038.2:c.211+2772_211+2775delinsCCCG	ENSP00000459882.2:n.211+2772_211+2775delinsCCCG
ENST00000566069.6:c.1468_1471delinsCCCG	ENSP00000459237.2:p.Pro490=
ENST00000697377.2:c.1474_1477delinsCCCG	ENSP00000513286.2:p.Pro492=
ENST00000697379.2:c.1474_1477delinsCCCG	ENSP00000513287.2:p.Pro492=
ENST00000561514.2:c.583_586delinsCCCG	ENSP00000460666.2:p.Pro195=
ENST00000697374.1:c.583_586delinsCCCG	ENSP00000513284.1:p.Pro195=
ENST00000697375.1:n.2815_2818delinsCCCG
ENST00000697376.1:c.583_586delinsCCCG	ENSP00000513285.1:p.Pro195=
ENST00000697377.1:c.583_586delinsCCCG	ENSP00000513286.1:p.Pro195=
ENST00000697378.1:n.1988_1991delinsCCCG
ENST00000697379.1:c.583_586delinsCCCG	ENSP00000513287.1:p.Pro195=
ENST00000697382.1:c.583_586delinsCCCG	ENSP00000513288.1:p.Pro195=
ENST00000697383.1:c.49-5803_49-5800delinsCCCG	ENSP00000513289.1:n.49-5803_49-5800delinsCCCG
ENST00000697384.1:n.1622_1625delinsCCCG
ENST00000261584.9:c.1468_1471delinsCCCG MANE Select	ENSP00000261584.4:p.Pro490=
ENST00000261584.8:c.1468_1471delinsCCCG	ENSP00000261584.4:p.Pro490=
ENST00000565038.1:c.86+2772_86+2775delinsCCCG
ENST00000568219.5:c.583_586delinsCCCG	ENSP00000454703.2:p.Pro195=
NM_024675.3:c.1468_1471delinsCCCG , LRG_308t1:c.1468_1471delinsCCCG	NP_078951.2:p.Pro490=
XM_011545946.1:c.1474_1477delinsCCCG	XP_011544248.1:p.Pro492=
XM_011545947.1:c.1474_1477delinsCCCG	XP_011544249.1:p.Pro492=
XM_011545948.1:c.583_586delinsCCCG	XP_011544250.1:p.Pro195=
XR_950851.1:n.2264_2267delinsCCCG
XM_011545946.2:c.1474_1477delinsCCCG	XP_011544248.1:p.Pro492=
XM_011545947.2:c.1474_1477delinsCCCG	XP_011544249.1:p.Pro492=
XM_011545948.2:c.583_586delinsCCCG	XP_011544250.1:p.Pro195=
XM_017023671.1:c.1474_1477delinsCCCG	XP_016879160.1:p.Pro492=
XM_017023672.2:c.1468_1471delinsCCCG	XP_016879161.1:p.Pro490=
XM_017023673.2:c.1468_1471delinsCCCG	XP_016879162.1:p.Pro490=
NM_024675.4:c.1468_1471delinsCCCG MANE Select	NP_078951.2:p.Pro490=