Canonical Allele Identifier: CA2213434321
Community Standard Title: NM_024675.4(PALB2):c.72G= (p.Leu24=)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23638106C= , CM000678.2:g.23638106C= GRCh38
NC_000016.9:g.23649427C= , CM000678.1:g.23649427C= GRCh37
NC_000016.8:g.23556928C= NCBI36
NG_007406.1:g.8252G= , LRG_308:g.8252G=

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.72G= MANE Select NP_078951.2:p.Leu24=
ENST00000261584.9:c.72G= MANE Select ENSP00000261584.4:p.Leu24=
NM_024675.3:c.72G= , LRG_308t1:c.72G= NP_078951.2:p.Leu24=
ENST00000261584.8:c.72G= ENSP00000261584.4:p.Leu24=
ENST00000561514.1:c.78G= ENSP00000460666.1:p.Leu26=
ENST00000561514.2:c.-814G= ENSP00000460666.2:n.-814G=
ENST00000561514.3:c.78G= ENSP00000460666.3:p.Leu26=
ENST00000565038.2:c.72G= ENSP00000459882.2:p.Leu24=
ENST00000566069.6:c.72G= ENSP00000459237.2:p.Leu24=
ENST00000567003.1:n.350G=
ENST00000568219.5:c.-814G= ENSP00000454703.2:n.-814G=
ENST00000697374.1:c.-814G= ENSP00000513284.1:n.-814G=
ENST00000697375.1:n.1419G=
ENST00000697376.1:c.-850G= ENSP00000513285.1:n.-850G=
ENST00000697377.1:c.-814G= ENSP00000513286.1:n.-814G=
ENST00000697377.2:c.78G= ENSP00000513286.2:p.Leu26=
ENST00000697378.1:n.592G=
ENST00000697379.1:c.-814G= ENSP00000513287.1:n.-814G=
ENST00000697379.2:c.78G= ENSP00000513287.2:p.Leu26=
ENST00000697382.1:c.-814G= ENSP00000513288.1:n.-814G=
ENST00000697383.1:c.48+3004G= ENSP00000513289.1:n.48+3004G=
ENST00000697384.1:n.226G=
XM_011545946.1:c.78G= XP_011544248.1:p.Leu26=
XM_011545946.2:c.78G= XP_011544248.1:p.Leu26=
XM_011545947.1:c.78G= XP_011544249.1:p.Leu26=
XM_011545947.2:c.78G= XP_011544249.1:p.Leu26=
XM_011545948.1:c.-814G= XP_011544250.1:n.-814G=
XM_011545948.2:c.-814G= XP_011544250.1:n.-814G=
XM_017023671.1:c.78G= XP_016879160.1:p.Leu26=
XM_017023672.2:c.72G= XP_016879161.1:p.Leu24=
XM_017023673.2:c.72G= XP_016879162.1:p.Leu24=
XR_950851.1:n.868G=