Canonical Allele Identifier: CA2213429944
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635591_23635601delinsAACTTGTGGGC , CM000678.2:g.23635591_23635601delinsAACTTGTGGGC GRCh38
NC_000016.9:g.23646912_23646922delinsAACTTGTGGGC , CM000678.1:g.23646912_23646922delinsAACTTGTGGGC GRCh37
NC_000016.8:g.23554413_23554423delinsAACTTGTGGGC NCBI36
NG_007406.1:g.10757_10767delinsGCCCACAAGTT , LRG_308:g.10757_10767delinsGCCCACAAGTT

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.951_961delinsGCCCACAAGTT ENSP00000460666.3:p.Leu317=
ENST00000565038.2:c.211+2249_211+2259delinsGCCCACAAGTT ENSP00000459882.2:n.211+2249_211+2259delinsGCCCACAAGTT
ENST00000566069.6:c.945_955delinsGCCCACAAGTT ENSP00000459237.2:p.Leu315=
ENST00000697377.2:c.951_961delinsGCCCACAAGTT ENSP00000513286.2:p.Leu317=
ENST00000697379.2:c.951_961delinsGCCCACAAGTT ENSP00000513287.2:p.Leu317=
ENST00000561514.2:c.60_70delinsGCCCACAAGTT ENSP00000460666.2:p.Leu20=
ENST00000697374.1:c.60_70delinsGCCCACAAGTT ENSP00000513284.1:p.Leu20=
ENST00000697375.1:n.2292_2302delinsGCCCACAAGTT
ENST00000697376.1:c.60_70delinsGCCCACAAGTT ENSP00000513285.1:p.Leu20=
ENST00000697377.1:c.60_70delinsGCCCACAAGTT ENSP00000513286.1:p.Leu20=
ENST00000697378.1:n.1465_1475delinsGCCCACAAGTT
ENST00000697379.1:c.60_70delinsGCCCACAAGTT ENSP00000513287.1:p.Leu20=
ENST00000697382.1:c.60_70delinsGCCCACAAGTT ENSP00000513288.1:p.Leu20=
ENST00000697383.1:c.48+5509_48+5519delinsGCCCACAAGTT ENSP00000513289.1:n.48+5509_48+5519delinsGCCCACAAGTT
ENST00000697384.1:n.1099_1109delinsGCCCACAAGTT
ENST00000261584.9:c.945_955delinsGCCCACAAGTT MANE Select ENSP00000261584.4:p.Leu315=
ENST00000261584.8:c.945_955delinsGCCCACAAGTT ENSP00000261584.4:p.Leu315=
ENST00000565038.1:c.86+2249_86+2259delinsGCCCACAAGTT
ENST00000568219.5:c.60_70delinsGCCCACAAGTT ENSP00000454703.2:p.Leu20=
NM_024675.3:c.945_955delinsGCCCACAAGTT , LRG_308t1:c.945_955delinsGCCCACAAGTT NP_078951.2:p.Leu315=
XM_011545946.1:c.951_961delinsGCCCACAAGTT XP_011544248.1:p.Leu317=
XM_011545947.1:c.951_961delinsGCCCACAAGTT XP_011544249.1:p.Leu317=
XM_011545948.1:c.60_70delinsGCCCACAAGTT XP_011544250.1:p.Leu20=
XR_950851.1:n.1741_1751delinsGCCCACAAGTT
XM_011545946.2:c.951_961delinsGCCCACAAGTT XP_011544248.1:p.Leu317=
XM_011545947.2:c.951_961delinsGCCCACAAGTT XP_011544249.1:p.Leu317=
XM_011545948.2:c.60_70delinsGCCCACAAGTT XP_011544250.1:p.Leu20=
XM_017023671.1:c.951_961delinsGCCCACAAGTT XP_016879160.1:p.Leu317=
XM_017023672.2:c.945_955delinsGCCCACAAGTT XP_016879161.1:p.Leu315=
XM_017023673.2:c.945_955delinsGCCCACAAGTT XP_016879162.1:p.Leu315=
NM_024675.4:c.945_955delinsGCCCACAAGTT MANE Select NP_078951.2:p.Leu315=