Canonical Allele Identifier: CA2695197539

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674144
• ClinVar RCV Id: RCV003452340

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23634870_23634875delinsCG , CM000678.2:g.23634870_23634875delinsCG	GRCh38
NC_000016.9:g.23646191_23646196delinsCG , CM000678.1:g.23646191_23646196delinsCG	GRCh37
NC_000016.8:g.23553692_23553697delinsCG	NCBI36
NG_007406.1:g.11483_11488delinsCG , LRG_308:g.11483_11488delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1677_1682delinsCG	ENSP00000460666.3:p.Ile560GlufsTer2
ENST00000565038.2:c.211+2975_211+2980delinsCG	ENSP00000459882.2:n.211+2975_211+2980delinsCG
ENST00000566069.6:c.1671_1676delinsCG	ENSP00000459237.2:p.Ile558GlufsTer2
ENST00000697377.2:c.1677_1682delinsCG	ENSP00000513286.2:p.Ile560GlufsTer2
ENST00000697379.2:c.1677_1682delinsCG	ENSP00000513287.2:p.Ile560GlufsTer2
ENST00000561514.2:c.786_791delinsCG	ENSP00000460666.2:p.Ile263GlufsTer2
ENST00000697374.1:c.786_791delinsCG	ENSP00000513284.1:p.Ile263GlufsTer2
ENST00000697375.1:n.3018_3023delinsCG
ENST00000697376.1:c.786_791delinsCG	ENSP00000513285.1:p.Ile263GlufsTer2
ENST00000697377.1:c.786_791delinsCG	ENSP00000513286.1:p.Ile263GlufsTer2
ENST00000697378.1:n.2191_2196delinsCG
ENST00000697379.1:c.786_791delinsCG	ENSP00000513287.1:p.Ile263GlufsTer2
ENST00000697382.1:c.786_791delinsCG	ENSP00000513288.1:p.Ile263GlufsTer2
ENST00000697383.1:c.49-5600_49-5595delinsCG	ENSP00000513289.1:n.49-5600_49-5595delinsCG
ENST00000697384.1:n.1825_1830delinsCG
ENST00000261584.9:c.1671_1676delinsCG MANE Select	ENSP00000261584.4:p.Ile558GlufsTer2
ENST00000261584.8:c.1671_1676delinsCG	ENSP00000261584.4:p.Ile558GlufsTer2
ENST00000565038.1:c.86+2975_86+2980delinsCG
ENST00000568219.5:c.786_791delinsCG	ENSP00000454703.2:p.Ile263GlufsTer2
NM_024675.3:c.1671_1676delinsCG , LRG_308t1:c.1671_1676delinsCG	NP_078951.2:p.Ile558GlufsTer2
XM_011545946.1:c.1677_1682delinsCG	XP_011544248.1:p.Ile560GlufsTer2
XM_011545947.1:c.1677_1682delinsCG	XP_011544249.1:p.Ile560GlufsTer2
XM_011545948.1:c.786_791delinsCG	XP_011544250.1:p.Ile263GlufsTer2
XR_950851.1:n.2467_2472delinsCG
XM_011545946.2:c.1677_1682delinsCG	XP_011544248.1:p.Ile560GlufsTer2
XM_011545947.2:c.1677_1682delinsCG	XP_011544249.1:p.Ile560GlufsTer2
XM_011545948.2:c.786_791delinsCG	XP_011544250.1:p.Ile263GlufsTer2
XM_017023671.1:c.1677_1682delinsCG	XP_016879160.1:p.Ile560GlufsTer2
XM_017023672.2:c.1671_1676delinsCG	XP_016879161.1:p.Ile558GlufsTer2
XM_017023673.2:c.1671_1676delinsCG	XP_016879162.1:p.Ile558GlufsTer2
NM_024675.4:c.1671_1676delinsCG MANE Select	NP_078951.2:p.Ile558GlufsTer2