Canonical Allele Identifier: CA3273066662
Community Standard Title: NM_000059.4(BRCA2):c.8375_8376delinsCC (p.Leu2792Pro)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32370445_32370446delinsCC , CM000675.2:g.32370445_32370446delinsCC GRCh38
NC_000013.10:g.32944582_32944583delinsCC , CM000675.1:g.32944582_32944583delinsCC GRCh37
NC_000013.9:g.31842582_31842583delinsCC NCBI36
NG_012772.3:g.59966_59967delinsCC , LRG_293:g.59966_59967delinsCC

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.8375_8376delinsCC MANE Select NP_000050.3:p.Leu2792Pro
ENST00000380152.8:c.8375_8376delinsCC MANE Select ENSP00000369497.3:p.Leu2792Pro
NM_000059.3:c.8375_8376delinsCC , LRG_293t1:c.8375_8376delinsCC NP_000050.2:p.Leu2792Pro
ENST00000380152.7:c.8375_8376delinsCC ENSP00000369497.3:p.Leu2792Pro
ENST00000470094.2:c.8375_8376delinsCC ENSP00000434898.2:p.Leu2792Pro
ENST00000528762.2:c.8375_8376delinsCC ENSP00000433168.2:p.Leu2792Pro
ENST00000530893.7:c.8006_8007delinsCC ENSP00000499438.2:p.Leu2669Pro
ENST00000544455.5:c.8375_8376delinsCC ENSP00000439902.1:p.Leu2792Pro
ENST00000544455.6:c.8375_8376delinsCC ENSP00000439902.1:p.Leu2792Pro
ENST00000614259.2:c.8383_8384delinsCC ENSP00000506251.1:n.8383_8384delinsCC
ENST00000665585.1:c.940_941delinsCC
ENST00000665585.2:c.8375_8376delinsCC ENSP00000499570.2:p.Leu2792Pro
ENST00000666593.2:c.8375_8376delinsCC ENSP00000499256.2:p.Leu2792Pro
ENST00000680887.1:c.8375_8376delinsCC ENSP00000505508.1:p.Leu2792Pro
ENST00000700202.1:c.842_843delinsCC ENSP00000514856.1:p.Leu281Pro
ENST00000700202.2:c.8375_8376delinsCC ENSP00000514856.2:p.Leu2792Pro
XM_011535203.1:c.8375_8376delinsCC XP_011533505.1:p.Leu2792Pro
XM_011535204.1:c.8279_8280delinsCC XP_011533506.1:p.Leu2760Pro
XM_011535205.1:c.8375_8376delinsCC XP_011533507.1:p.Leu2792Pro