Canonical Allele Identifier: CA3252639028
Community Standard Title: NM_024675.4(PALB2):c.3162_3164del (p.Tyr1055del)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23614041_23614043del , CM000678.2:g.23614041_23614043del GRCh38
NC_000016.9:g.23625362_23625364del , CM000678.1:g.23625362_23625364del GRCh37
NC_000016.8:g.23532863_23532865del NCBI36
NG_007406.1:g.32315_32317del , LRG_308:g.32315_32317del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.3162_3164del MANE Select NP_078951.2:p.Tyr1055del
ENST00000261584.9:c.3162_3164del MANE Select ENSP00000261584.4:p.Tyr1055del
NM_024675.3:c.3162_3164del , LRG_308t1:c.3162_3164del NP_078951.2:p.Tyr1055del
ENST00000261584.8:c.3162_3164del ENSP00000261584.4:p.Tyr1055del
ENST00000561514.2:c.2277_2279del ENSP00000460666.2:p.Tyr760del
ENST00000561514.3:c.3168_3170del ENSP00000460666.3:p.Tyr1057del
ENST00000565038.2:c.*643_*645del ENSP00000459882.2:n.*643_*645del
ENST00000566069.5:c.77_79del
ENST00000566069.6:c.3162_3164del ENSP00000459237.2:p.Tyr1055del
ENST00000568219.5:c.2277_2279del ENSP00000454703.2:p.Tyr760del
ENST00000697374.1:c.2277_2279del ENSP00000513284.1:p.Tyr760del
ENST00000697375.1:n.4509_4511del
ENST00000697376.1:c.2277_2279del ENSP00000513285.1:p.Tyr760del
ENST00000697377.1:c.2115_2117del ENSP00000513286.1:p.Tyr706del
ENST00000697377.2:c.3006_3008del ENSP00000513286.2:p.Tyr1003del
ENST00000697378.1:n.3682_3684del
ENST00000697379.1:c.2277_2279del ENSP00000513287.1:p.Tyr760del
ENST00000697379.2:c.3168_3170del ENSP00000513287.2:p.Tyr1057del
ENST00000697380.1:n.2406-6031_2406-6029del
ENST00000697381.1:n.1857_1859del
ENST00000697382.1:c.2229-6031_2229-6029del ENSP00000513288.1:n.2229-6031_2229-6029del
ENST00000697383.1:c.696_698del ENSP00000513289.1:p.Tyr233del
XM_011545946.1:c.3168_3170del XP_011544248.1:p.Tyr1057del
XM_011545946.2:c.3168_3170del XP_011544248.1:p.Tyr1057del
XM_011545947.1:c.3168_3170del XP_011544249.1:p.Tyr1057del
XM_011545947.2:c.3168_3170del XP_011544249.1:p.Tyr1057del
XM_011545948.1:c.2277_2279del XP_011544250.1:p.Tyr760del
XM_011545948.2:c.2277_2279del XP_011544250.1:p.Tyr760del
XM_017023671.1:c.3119+7319_3119+7321del XP_016879160.1:n.3119+7319_3119+7321del
XM_017023672.2:c.3113+7319_3113+7321del XP_016879161.1:n.3113+7319_3113+7321del
XM_017023673.2:c.3162_3164del XP_016879162.1:p.Tyr1055del
XR_950851.1:n.3910-6031_3910-6029del