Canonical Allele Identifier: CA2213412601
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623049_23623050delinsCA , CM000678.2:g.23623049_23623050delinsCA GRCh38
NC_000016.9:g.23634370_23634371delinsCA , CM000678.1:g.23634370_23634371delinsCA GRCh37
NC_000016.8:g.23541871_23541872delinsCA NCBI36
NG_007406.1:g.23308_23309delinsTG , LRG_308:g.23308_23309delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2921_2922delinsTG ENSP00000460666.3:p.Leu974=
ENST00000565038.2:c.*396_*397delinsTG ENSP00000459882.2:n.*396_*397delinsTG
ENST00000566069.6:c.2915_2916delinsTG ENSP00000459237.2:p.Leu972=
ENST00000697377.2:c.2759_2760delinsTG ENSP00000513286.2:p.Leu920=
ENST00000697379.2:c.2921_2922delinsTG ENSP00000513287.2:p.Leu974=
ENST00000561514.2:c.2030_2031delinsTG ENSP00000460666.2:p.Leu677=
ENST00000697374.1:c.2030_2031delinsTG ENSP00000513284.1:p.Leu677=
ENST00000697375.1:n.4262_4263delinsTG
ENST00000697376.1:c.2030_2031delinsTG ENSP00000513285.1:p.Leu677=
ENST00000697377.1:c.1868_1869delinsTG ENSP00000513286.1:p.Leu623=
ENST00000697378.1:n.3435_3436delinsTG
ENST00000697379.1:c.2030_2031delinsTG ENSP00000513287.1:p.Leu677=
ENST00000697380.1:n.2207_2208delinsTG
ENST00000697381.1:n.1610_1611delinsTG
ENST00000697382.1:c.2030_2031delinsTG ENSP00000513288.1:p.Leu677=
ENST00000697383.1:c.449_450delinsTG ENSP00000513289.1:p.Leu150=
ENST00000261584.9:c.2915_2916delinsTG MANE Select ENSP00000261584.4:p.Leu972=
ENST00000261584.8:c.2915_2916delinsTG ENSP00000261584.4:p.Leu972=
ENST00000568219.5:c.2030_2031delinsTG ENSP00000454703.2:p.Leu677=
NM_024675.3:c.2915_2916delinsTG , LRG_308t1:c.2915_2916delinsTG NP_078951.2:p.Leu972=
XM_011545946.1:c.2921_2922delinsTG XP_011544248.1:p.Leu974=
XM_011545947.1:c.2921_2922delinsTG XP_011544249.1:p.Leu974=
XM_011545948.1:c.2030_2031delinsTG XP_011544250.1:p.Leu677=
XR_950851.1:n.3711_3712delinsTG
XM_011545946.2:c.2921_2922delinsTG XP_011544248.1:p.Leu974=
XM_011545947.2:c.2921_2922delinsTG XP_011544249.1:p.Leu974=
XM_011545948.2:c.2030_2031delinsTG XP_011544250.1:p.Leu677=
XM_017023671.1:c.2921_2922delinsTG XP_016879160.1:p.Leu974=
XM_017023672.2:c.2915_2916delinsTG XP_016879161.1:p.Leu972=
XM_017023673.2:c.2915_2916delinsTG XP_016879162.1:p.Leu972=
NM_024675.4:c.2915_2916delinsTG MANE Select NP_078951.2:p.Leu972=