Canonical Allele Identifier: CA2632328011

Gene: PALB2

Linked Data

• gnomAD v4: 16-23634862-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23634865del , CM000678.2:g.23634865del	GRCh38
NC_000016.9:g.23646186del , CM000678.1:g.23646186del	GRCh37
NC_000016.8:g.23553687del	NCBI36
NG_007406.1:g.11495del , LRG_308:g.11495del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1689del	ENSP00000460666.3:p.Lys565ArgfsTer?
ENST00000565038.2:c.211+2987del	ENSP00000459882.2:n.211+2987del
ENST00000566069.6:c.1683del	ENSP00000459237.2:p.Lys563ArgfsTer?
ENST00000697377.2:c.1689del	ENSP00000513286.2:p.Lys565ArgfsTer?
ENST00000697379.2:c.1689del	ENSP00000513287.2:p.Lys565ArgfsTer?
ENST00000561514.2:c.798del	ENSP00000460666.2:p.Lys268ArgfsTer?
ENST00000697374.1:c.798del	ENSP00000513284.1:p.Lys268ArgfsTer?
ENST00000697375.1:n.3030del
ENST00000697376.1:c.798del	ENSP00000513285.1:p.Lys268ArgfsTer?
ENST00000697377.1:c.798del	ENSP00000513286.1:p.Lys268ArgfsTer?
ENST00000697378.1:n.2203del
ENST00000697379.1:c.798del	ENSP00000513287.1:p.Lys268ArgfsTer?
ENST00000697382.1:c.798del	ENSP00000513288.1:p.Lys268ArgfsTer?
ENST00000697383.1:c.49-5588del	ENSP00000513289.1:n.49-5588del
ENST00000697384.1:n.1837del
ENST00000261584.9:c.1683del MANE Select	ENSP00000261584.4:p.Lys563ArgfsTer?
ENST00000261584.8:c.1683del	ENSP00000261584.4:p.Lys563ArgfsTer?
ENST00000565038.1:c.86+2987del
ENST00000568219.5:c.798del	ENSP00000454703.2:p.Lys268ArgfsTer?
NM_024675.3:c.1683del , LRG_308t1:c.1683del	NP_078951.2:p.Lys563ArgfsTer?
XM_011545946.1:c.1689del	XP_011544248.1:p.Lys565ArgfsTer?
XM_011545947.1:c.1689del	XP_011544249.1:p.Lys565ArgfsTer?
XM_011545948.1:c.798del	XP_011544250.1:p.Lys268ArgfsTer?
XR_950851.1:n.2479del
XM_011545946.2:c.1689del	XP_011544248.1:p.Lys565ArgfsTer?
XM_011545947.2:c.1689del	XP_011544249.1:p.Lys565ArgfsTer?
XM_011545948.2:c.798del	XP_011544250.1:p.Lys268ArgfsTer?
XM_017023671.1:c.1689del	XP_016879160.1:p.Lys565ArgfsTer?
XM_017023672.2:c.1683del	XP_016879161.1:p.Lys563ArgfsTer?
XM_017023673.2:c.1683del	XP_016879162.1:p.Lys563ArgfsTer?
NM_024675.4:c.1683del MANE Select	NP_078951.2:p.Lys563ArgfsTer?