Canonical Allele Identifier: CA3252639020
Community Standard Title: NM_024675.4(PALB2):c.3163_3165del (p.Tyr1055del)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23614040_23614042del , CM000678.2:g.23614040_23614042del GRCh38
NC_000016.9:g.23625361_23625363del , CM000678.1:g.23625361_23625363del GRCh37
NC_000016.8:g.23532862_23532864del NCBI36
NG_007406.1:g.32316_32318del , LRG_308:g.32316_32318del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.3163_3165del MANE Select NP_078951.2:p.Tyr1055del
ENST00000261584.9:c.3163_3165del MANE Select ENSP00000261584.4:p.Tyr1055del
NM_024675.3:c.3163_3165del , LRG_308t1:c.3163_3165del NP_078951.2:p.Tyr1055del
ENST00000261584.8:c.3163_3165del ENSP00000261584.4:p.Tyr1055del
ENST00000561514.2:c.2278_2280del ENSP00000460666.2:p.Tyr760del
ENST00000561514.3:c.3169_3171del ENSP00000460666.3:p.Tyr1057del
ENST00000565038.2:c.*644_*646del ENSP00000459882.2:n.*644_*646del
ENST00000566069.5:c.78_80del
ENST00000566069.6:c.3163_3165del ENSP00000459237.2:p.Tyr1055del
ENST00000568219.5:c.2278_2280del ENSP00000454703.2:p.Tyr760del
ENST00000697374.1:c.2278_2280del ENSP00000513284.1:p.Tyr760del
ENST00000697375.1:n.4510_4512del
ENST00000697376.1:c.2278_2280del ENSP00000513285.1:p.Tyr760del
ENST00000697377.1:c.2116_2118del ENSP00000513286.1:p.Tyr706del
ENST00000697377.2:c.3007_3009del ENSP00000513286.2:p.Tyr1003del
ENST00000697378.1:n.3683_3685del
ENST00000697379.1:c.2278_2280del ENSP00000513287.1:p.Tyr760del
ENST00000697379.2:c.3169_3171del ENSP00000513287.2:p.Tyr1057del
ENST00000697380.1:n.2406-6030_2406-6028del
ENST00000697381.1:n.1858_1860del
ENST00000697382.1:c.2229-6030_2229-6028del ENSP00000513288.1:n.2229-6030_2229-6028del
ENST00000697383.1:c.697_699del ENSP00000513289.1:p.Tyr233del
XM_011545946.1:c.3169_3171del XP_011544248.1:p.Tyr1057del
XM_011545946.2:c.3169_3171del XP_011544248.1:p.Tyr1057del
XM_011545947.1:c.3169_3171del XP_011544249.1:p.Tyr1057del
XM_011545947.2:c.3169_3171del XP_011544249.1:p.Tyr1057del
XM_011545948.1:c.2278_2280del XP_011544250.1:p.Tyr760del
XM_011545948.2:c.2278_2280del XP_011544250.1:p.Tyr760del
XM_017023671.1:c.3119+7320_3119+7322del XP_016879160.1:n.3119+7320_3119+7322del
XM_017023672.2:c.3113+7320_3113+7322del XP_016879161.1:n.3113+7320_3113+7322del
XM_017023673.2:c.3163_3165del XP_016879162.1:p.Tyr1055del
XR_950851.1:n.3910-6030_3910-6028del