Canonical Allele Identifier: CA2632326823

Gene: PALB2

Linked Data

• gnomAD v4: 16-23635499-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635502_23635503dup , CM000678.2:g.23635502_23635503dup	GRCh38
NC_000016.9:g.23646823_23646824dup , CM000678.1:g.23646823_23646824dup	GRCh37
NC_000016.8:g.23554324_23554325dup	NCBI36
NG_007406.1:g.10857_10858dup , LRG_308:g.10857_10858dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1051_1052dup	ENSP00000460666.3:p.Asn351LysfsTer8
ENST00000565038.2:c.211+2349_211+2350dup	ENSP00000459882.2:n.211+2349_211+2350dup
ENST00000566069.6:c.1045_1046dup	ENSP00000459237.2:p.Asn349LysfsTer8
ENST00000697377.2:c.1051_1052dup	ENSP00000513286.2:p.Asn351LysfsTer8
ENST00000697379.2:c.1051_1052dup	ENSP00000513287.2:p.Asn351LysfsTer8
ENST00000561514.2:c.160_161dup	ENSP00000460666.2:p.Asn54LysfsTer8
ENST00000697374.1:c.160_161dup	ENSP00000513284.1:p.Asn54LysfsTer8
ENST00000697375.1:n.2392_2393dup
ENST00000697376.1:c.160_161dup	ENSP00000513285.1:p.Asn54LysfsTer8
ENST00000697377.1:c.160_161dup	ENSP00000513286.1:p.Asn54LysfsTer8
ENST00000697378.1:n.1565_1566dup
ENST00000697379.1:c.160_161dup	ENSP00000513287.1:p.Asn54LysfsTer8
ENST00000697382.1:c.160_161dup	ENSP00000513288.1:p.Asn54LysfsTer8
ENST00000697383.1:c.48+5609_48+5610dup	ENSP00000513289.1:n.48+5609_48+5610dup
ENST00000697384.1:n.1199_1200dup
ENST00000261584.9:c.1045_1046dup MANE Select	ENSP00000261584.4:p.Asn349LysfsTer8
ENST00000261584.8:c.1045_1046dup	ENSP00000261584.4:p.Asn349LysfsTer8
ENST00000565038.1:c.86+2349_86+2350dup
ENST00000568219.5:c.160_161dup	ENSP00000454703.2:p.Asn54LysfsTer8
NM_024675.3:c.1045_1046dup , LRG_308t1:c.1045_1046dup	NP_078951.2:p.Asn349LysfsTer8
XM_011545946.1:c.1051_1052dup	XP_011544248.1:p.Asn351LysfsTer8
XM_011545947.1:c.1051_1052dup	XP_011544249.1:p.Asn351LysfsTer8
XM_011545948.1:c.160_161dup	XP_011544250.1:p.Asn54LysfsTer8
XR_950851.1:n.1841_1842dup
XM_011545946.2:c.1051_1052dup	XP_011544248.1:p.Asn351LysfsTer8
XM_011545947.2:c.1051_1052dup	XP_011544249.1:p.Asn351LysfsTer8
XM_011545948.2:c.160_161dup	XP_011544250.1:p.Asn54LysfsTer8
XM_017023671.1:c.1051_1052dup	XP_016879160.1:p.Asn351LysfsTer8
XM_017023672.2:c.1045_1046dup	XP_016879161.1:p.Asn349LysfsTer8
XM_017023673.2:c.1045_1046dup	XP_016879162.1:p.Asn349LysfsTer8
NM_024675.4:c.1045_1046dup MANE Select	NP_078951.2:p.Asn349LysfsTer8