Canonical Allele Identifier: CA2213429673
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635536_23635538delinsAAG , CM000678.2:g.23635536_23635538delinsAAG GRCh38
NC_000016.9:g.23646857_23646859delinsAAG , CM000678.1:g.23646857_23646859delinsAAG GRCh37
NC_000016.8:g.23554358_23554360delinsAAG NCBI36
NG_007406.1:g.10820_10822delinsCTT , LRG_308:g.10820_10822delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1014_1016delinsCTT ENSP00000460666.3:p.Asn338=
ENST00000565038.2:c.211+2312_211+2314delinsCTT ENSP00000459882.2:n.211+2312_211+2314delinsCTT
ENST00000566069.6:c.1008_1010delinsCTT ENSP00000459237.2:p.Asn336=
ENST00000697377.2:c.1014_1016delinsCTT ENSP00000513286.2:p.Asn338=
ENST00000697379.2:c.1014_1016delinsCTT ENSP00000513287.2:p.Asn338=
ENST00000561514.2:c.123_125delinsCTT ENSP00000460666.2:p.Asn41=
ENST00000697374.1:c.123_125delinsCTT ENSP00000513284.1:p.Asn41=
ENST00000697375.1:n.2355_2357delinsCTT
ENST00000697376.1:c.123_125delinsCTT ENSP00000513285.1:p.Asn41=
ENST00000697377.1:c.123_125delinsCTT ENSP00000513286.1:p.Asn41=
ENST00000697378.1:n.1528_1530delinsCTT
ENST00000697379.1:c.123_125delinsCTT ENSP00000513287.1:p.Asn41=
ENST00000697382.1:c.123_125delinsCTT ENSP00000513288.1:p.Asn41=
ENST00000697383.1:c.48+5572_48+5574delinsCTT ENSP00000513289.1:n.48+5572_48+5574delinsCTT
ENST00000697384.1:n.1162_1164delinsCTT
ENST00000261584.9:c.1008_1010delinsCTT MANE Select ENSP00000261584.4:p.Asn336=
ENST00000261584.8:c.1008_1010delinsCTT ENSP00000261584.4:p.Asn336=
ENST00000565038.1:c.86+2312_86+2314delinsCTT
ENST00000568219.5:c.123_125delinsCTT ENSP00000454703.2:p.Asn41=
NM_024675.3:c.1008_1010delinsCTT , LRG_308t1:c.1008_1010delinsCTT NP_078951.2:p.Asn336=
XM_011545946.1:c.1014_1016delinsCTT XP_011544248.1:p.Asn338=
XM_011545947.1:c.1014_1016delinsCTT XP_011544249.1:p.Asn338=
XM_011545948.1:c.123_125delinsCTT XP_011544250.1:p.Asn41=
XR_950851.1:n.1804_1806delinsCTT
XM_011545946.2:c.1014_1016delinsCTT XP_011544248.1:p.Asn338=
XM_011545947.2:c.1014_1016delinsCTT XP_011544249.1:p.Asn338=
XM_011545948.2:c.123_125delinsCTT XP_011544250.1:p.Asn41=
XM_017023671.1:c.1014_1016delinsCTT XP_016879160.1:p.Asn338=
XM_017023672.2:c.1008_1010delinsCTT XP_016879161.1:p.Asn336=
XM_017023673.2:c.1008_1010delinsCTT XP_016879162.1:p.Asn336=
NM_024675.4:c.1008_1010delinsCTT MANE Select NP_078951.2:p.Asn336=