Canonical Allele Identifier: CA2573152217

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1374876
• ClinVar RCV Id: RCV001900718
• dbSNP Id: rs2142379399

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629989_23629990delinsAT , CM000678.2:g.23629989_23629990delinsAT	GRCh38
NC_000016.9:g.23641310_23641311delinsAT , CM000678.1:g.23641310_23641311delinsAT	GRCh37
NC_000016.8:g.23548811_23548812delinsAT	NCBI36
NG_007406.1:g.16368_16369delinsAT , LRG_308:g.16368_16369delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2170_2171delinsAT	ENSP00000460666.3:p.Asp724Ile
ENST00000565038.2:c.212-715_212-714delinsAT	ENSP00000459882.2:n.212-715_212-714delinsAT
ENST00000566069.6:c.2164_2165delinsAT	ENSP00000459237.2:p.Asp722Ile
ENST00000697377.2:c.2170_2171delinsAT	ENSP00000513286.2:p.Asp724Ile
ENST00000697379.2:c.2170_2171delinsAT	ENSP00000513287.2:p.Asp724Ile
ENST00000561514.2:c.1279_1280delinsAT	ENSP00000460666.2:p.Asp427Ile
ENST00000697374.1:c.1279_1280delinsAT	ENSP00000513284.1:p.Asp427Ile
ENST00000697375.1:n.3511_3512delinsAT
ENST00000697376.1:c.1279_1280delinsAT	ENSP00000513285.1:p.Asp427Ile
ENST00000697377.1:c.1279_1280delinsAT	ENSP00000513286.1:p.Asp427Ile
ENST00000697378.1:n.2684_2685delinsAT
ENST00000697379.1:c.1279_1280delinsAT	ENSP00000513287.1:p.Asp427Ile
ENST00000697380.1:n.1092_1093delinsAT
ENST00000697381.1:n.859_860delinsAT
ENST00000697382.1:c.1279_1280delinsAT	ENSP00000513288.1:p.Asp427Ile
ENST00000697383.1:c.49-715_49-714delinsAT	ENSP00000513289.1:n.49-715_49-714delinsAT
ENST00000697384.1:n.2318_2319delinsAT
ENST00000261584.9:c.2164_2165delinsAT MANE Select	ENSP00000261584.4:p.Asp722Ile
ENST00000261584.8:c.2164_2165delinsAT	ENSP00000261584.4:p.Asp722Ile
ENST00000565038.1:c.87-715_87-714delinsAT
ENST00000568219.5:c.1279_1280delinsAT	ENSP00000454703.2:p.Asp427Ile
NM_024675.3:c.2164_2165delinsAT , LRG_308t1:c.2164_2165delinsAT	NP_078951.2:p.Asp722Ile
XM_011545946.1:c.2170_2171delinsAT	XP_011544248.1:p.Asp724Ile
XM_011545947.1:c.2170_2171delinsAT	XP_011544249.1:p.Asp724Ile
XM_011545948.1:c.1279_1280delinsAT	XP_011544250.1:p.Asp427Ile
XR_950851.1:n.2960_2961delinsAT
XM_011545946.2:c.2170_2171delinsAT	XP_011544248.1:p.Asp724Ile
XM_011545947.2:c.2170_2171delinsAT	XP_011544249.1:p.Asp724Ile
XM_011545948.2:c.1279_1280delinsAT	XP_011544250.1:p.Asp427Ile
XM_017023671.1:c.2170_2171delinsAT	XP_016879160.1:p.Asp724Ile
XM_017023672.2:c.2164_2165delinsAT	XP_016879161.1:p.Asp722Ile
XM_017023673.2:c.2164_2165delinsAT	XP_016879162.1:p.Asp722Ile
NM_024675.4:c.2164_2165delinsAT MANE Select	NP_078951.2:p.Asp722Ile