Canonical Allele Identifier: CA2213412257
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23622996_23622999delinsTCTA , CM000678.2:g.23622996_23622999delinsTCTA GRCh38
NC_000016.9:g.23634317_23634320delinsTCTA , CM000678.1:g.23634317_23634320delinsTCTA GRCh37
NC_000016.8:g.23541818_23541821delinsTCTA NCBI36
NG_007406.1:g.23359_23362delinsTAGA , LRG_308:g.23359_23362delinsTAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2972_2975delinsTAGA ENSP00000460666.3:p.Val991=
ENST00000565038.2:c.*447_*450delinsTAGA ENSP00000459882.2:n.*447_*450delinsTAGA
ENST00000566069.6:c.2966_2969delinsTAGA ENSP00000459237.2:p.Val989=
ENST00000697377.2:c.2810_2813delinsTAGA ENSP00000513286.2:p.Val937=
ENST00000697379.2:c.2972_2975delinsTAGA ENSP00000513287.2:p.Val991=
ENST00000561514.2:c.2081_2084delinsTAGA ENSP00000460666.2:p.Val694=
ENST00000697374.1:c.2081_2084delinsTAGA ENSP00000513284.1:p.Val694=
ENST00000697375.1:n.4313_4316delinsTAGA
ENST00000697376.1:c.2081_2084delinsTAGA ENSP00000513285.1:p.Val694=
ENST00000697377.1:c.1919_1922delinsTAGA ENSP00000513286.1:p.Val640=
ENST00000697378.1:n.3486_3489delinsTAGA
ENST00000697379.1:c.2081_2084delinsTAGA ENSP00000513287.1:p.Val694=
ENST00000697380.1:n.2258_2261delinsTAGA
ENST00000697381.1:n.1661_1664delinsTAGA
ENST00000697382.1:c.2081_2084delinsTAGA ENSP00000513288.1:p.Val694=
ENST00000697383.1:c.500_503delinsTAGA ENSP00000513289.1:p.Val167=
ENST00000261584.9:c.2966_2969delinsTAGA MANE Select ENSP00000261584.4:p.Val989=
ENST00000261584.8:c.2966_2969delinsTAGA ENSP00000261584.4:p.Val989=
ENST00000568219.5:c.2081_2084delinsTAGA ENSP00000454703.2:p.Val694=
NM_024675.3:c.2966_2969delinsTAGA , LRG_308t1:c.2966_2969delinsTAGA NP_078951.2:p.Val989=
XM_011545946.1:c.2972_2975delinsTAGA XP_011544248.1:p.Val991=
XM_011545947.1:c.2972_2975delinsTAGA XP_011544249.1:p.Val991=
XM_011545948.1:c.2081_2084delinsTAGA XP_011544250.1:p.Val694=
XR_950851.1:n.3762_3765delinsTAGA
XM_011545946.2:c.2972_2975delinsTAGA XP_011544248.1:p.Val991=
XM_011545947.2:c.2972_2975delinsTAGA XP_011544249.1:p.Val991=
XM_011545948.2:c.2081_2084delinsTAGA XP_011544250.1:p.Val694=
XM_017023671.1:c.2972_2975delinsTAGA XP_016879160.1:p.Val991=
XM_017023672.2:c.2966_2969delinsTAGA XP_016879161.1:p.Val989=
XM_017023673.2:c.2966_2969delinsTAGA XP_016879162.1:p.Val989=
NM_024675.4:c.2966_2969delinsTAGA MANE Select NP_078951.2:p.Val989=