Canonical Allele Identifier: CA2213422824
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629933_23629935delinsCTT , CM000678.2:g.23629933_23629935delinsCTT GRCh38
NC_000016.9:g.23641254_23641256delinsCTT , CM000678.1:g.23641254_23641256delinsCTT GRCh37
NC_000016.8:g.23548755_23548757delinsCTT NCBI36
NG_007406.1:g.16423_16425delinsAAG , LRG_308:g.16423_16425delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2225_2227delinsAAG ENSP00000460666.3:p.Gln742=
ENST00000565038.2:c.212-660_212-658delinsAAG ENSP00000459882.2:n.212-660_212-658delinsAAG
ENST00000566069.6:c.2219_2221delinsAAG ENSP00000459237.2:p.Gln740=
ENST00000697377.2:c.2225_2227delinsAAG ENSP00000513286.2:p.Gln742=
ENST00000697379.2:c.2225_2227delinsAAG ENSP00000513287.2:p.Gln742=
ENST00000561514.2:c.1334_1336delinsAAG ENSP00000460666.2:p.Gln445=
ENST00000697374.1:c.1334_1336delinsAAG ENSP00000513284.1:p.Gln445=
ENST00000697375.1:n.3566_3568delinsAAG
ENST00000697376.1:c.1334_1336delinsAAG ENSP00000513285.1:p.Gln445=
ENST00000697377.1:c.1334_1336delinsAAG ENSP00000513286.1:p.Gln445=
ENST00000697378.1:n.2739_2741delinsAAG
ENST00000697379.1:c.1334_1336delinsAAG ENSP00000513287.1:p.Gln445=
ENST00000697380.1:n.1147_1149delinsAAG
ENST00000697381.1:n.914_916delinsAAG
ENST00000697382.1:c.1334_1336delinsAAG ENSP00000513288.1:p.Gln445=
ENST00000697383.1:c.49-660_49-658delinsAAG ENSP00000513289.1:n.49-660_49-658delinsAAG
ENST00000697384.1:n.2373_2375delinsAAG
ENST00000261584.9:c.2219_2221delinsAAG MANE Select ENSP00000261584.4:p.Gln740=
ENST00000261584.8:c.2219_2221delinsAAG ENSP00000261584.4:p.Gln740=
ENST00000565038.1:c.87-660_87-658delinsAAG
ENST00000568219.5:c.1334_1336delinsAAG ENSP00000454703.2:p.Gln445=
NM_024675.3:c.2219_2221delinsAAG , LRG_308t1:c.2219_2221delinsAAG NP_078951.2:p.Gln740=
XM_011545946.1:c.2225_2227delinsAAG XP_011544248.1:p.Gln742=
XM_011545947.1:c.2225_2227delinsAAG XP_011544249.1:p.Gln742=
XM_011545948.1:c.1334_1336delinsAAG XP_011544250.1:p.Gln445=
XR_950851.1:n.3015_3017delinsAAG
XM_011545946.2:c.2225_2227delinsAAG XP_011544248.1:p.Gln742=
XM_011545947.2:c.2225_2227delinsAAG XP_011544249.1:p.Gln742=
XM_011545948.2:c.1334_1336delinsAAG XP_011544250.1:p.Gln445=
XM_017023671.1:c.2225_2227delinsAAG XP_016879160.1:p.Gln742=
XM_017023672.2:c.2219_2221delinsAAG XP_016879161.1:p.Gln740=
XM_017023673.2:c.2219_2221delinsAAG XP_016879162.1:p.Gln740=
NM_024675.4:c.2219_2221delinsAAG MANE Select NP_078951.2:p.Gln740=