Canonical Allele Identifier: CA2632330923

Gene: PALB2

Linked Data

• gnomAD v4: 16-23641110-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641114del , CM000678.2:g.23641114del	GRCh38
NC_000016.9:g.23652435del , CM000678.1:g.23652435del	GRCh37
NC_000016.8:g.23559936del	NCBI36
NG_007406.1:g.5247del , LRG_308:g.5247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-806del	ENSP00000460666.3:n.-806del
ENST00000565038.2:c.47del	ENSP00000459882.2:p.Lys16SerfsTer2
ENST00000566069.6:c.47del	ENSP00000459237.2:p.Lys16SerfsTer2
ENST00000697377.2:c.-193del	ENSP00000513286.2:n.-193del
ENST00000697379.2:c.-99del	ENSP00000513287.2:n.-99del
ENST00000561514.2:c.-1697del	ENSP00000460666.2:n.-1697del
ENST00000697374.1:c.-1288del	ENSP00000513284.1:n.-1288del
ENST00000697376.1:c.-1009del	ENSP00000513285.1:n.-1009del
ENST00000697377.1:c.-1084del	ENSP00000513286.1:n.-1084del
ENST00000697379.1:c.-990del	ENSP00000513287.1:n.-990del
ENST00000697382.1:c.-1748del	ENSP00000513288.1:n.-1748del
ENST00000697383.1:c.47del	ENSP00000513289.1:p.Lys16ArgfsTer13
ENST00000697384.1:n.201del
ENST00000261584.9:c.47del MANE Select	ENSP00000261584.4:p.Lys16SerfsTer2
ENST00000261584.8:c.47del	ENSP00000261584.4:p.Lys16SerfsTer2
ENST00000567003.1:n.191del
ENST00000568219.5:c.-838+16del	ENSP00000454703.2:n.-838+16del
NM_024675.3:c.47del , LRG_308t1:c.47del	NP_078951.2:p.Lys16SerfsTer2
XM_011545948.1:c.-973del	XP_011544250.1:n.-973del
XM_011545946.2:c.-806del	XP_011544248.1:n.-806del
XM_011545947.2:c.-806del	XP_011544249.1:n.-806del
XM_011545948.2:c.-973del	XP_011544250.1:n.-973del
XM_017023671.1:c.-806del	XP_016879160.1:n.-806del
XM_017023672.2:c.47del	XP_016879161.1:p.Lys16SerfsTer2
XM_017023673.2:c.47del	XP_016879162.1:p.Lys16SerfsTer2
NM_024675.4:c.47del MANE Select	NP_078951.2:p.Lys16SerfsTer2