Canonical Allele Identifier: CA019401
Community Standard Title: NM_000059.4(BRCA2):c.4021del (p.Ser1341GlnfsTer?)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32338376del , CM000675.2:g.32338376del GRCh38
NC_000013.10:g.32912513del , CM000675.1:g.32912513del GRCh37
NC_000013.9:g.31810513del NCBI36
NG_012772.3:g.27897del , LRG_293:g.27897del

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.4021del MANE Select NP_000050.3:p.Ser1341GlnfsTer?
ENST00000380152.8:c.4021del MANE Select ENSP00000369497.3:p.Ser1341GlnfsTer?
NM_000059.3:c.4021del , LRG_293t1:c.4021del NP_000050.2:p.Ser1341GlnfsTer?
ENST00000380152.7:c.4021del ENSP00000369497.3:p.Ser1341GlnfsTer?
ENST00000470094.2:c.4021del ENSP00000434898.2:p.Ser1341GlnfsTer?
ENST00000528762.2:c.4021del ENSP00000433168.2:p.Ser1341GlnfsTer?
ENST00000530893.7:c.3652del ENSP00000499438.2:p.Ser1218GlnfsTer?
ENST00000544455.5:c.4021del ENSP00000439902.1:p.Ser1341GlnfsTer?
ENST00000544455.6:c.4021del ENSP00000439902.1:p.Ser1341GlnfsTer?
ENST00000614259.1:n.4021del
ENST00000614259.2:c.4021del ENSP00000506251.1:p.Ser1341GlnfsTer?
ENST00000665585.2:c.4021del ENSP00000499570.2:p.Ser1341GlnfsTer?
ENST00000666593.2:c.4021del ENSP00000499256.2:p.Ser1341GlnfsTer?
ENST00000680887.1:c.4021del ENSP00000505508.1:p.Ser1341GlnfsTer?
ENST00000700202.2:c.4021del ENSP00000514856.2:p.Ser1341GlnfsTer?
XM_011535203.1:c.4021del XP_011533505.1:p.Ser1341GlnfsTer?
XM_011535204.1:c.4021del XP_011533506.1:p.Ser1341GlnfsTer?
XM_011535205.1:c.4021del XP_011533507.1:p.Ser1341GlnfsTer?