Canonical Allele Identifier: CA3050533059
Community Standard Title: NM_000059.4(BRCA2):c.7806-21_7806-19del
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362502_32362504del , CM000675.2:g.32362502_32362504del GRCh38
NC_000013.10:g.32936639_32936641del , CM000675.1:g.32936639_32936641del GRCh37
NC_000013.9:g.31834639_31834641del NCBI36
NG_012772.3:g.52023_52025del , LRG_293:g.52023_52025del

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.7806-21_7806-19del MANE Select NP_000050.3:n.7806-21_7806-19del
ENST00000380152.8:c.7806-21_7806-19del MANE Select ENSP00000369497.3:n.7806-21_7806-19del
NM_000059.3:c.7806-21_7806-19del , LRG_293t1:c.7806-21_7806-19del NP_000050.2:n.7806-21_7806-19del
ENST00000380152.7:c.7806-21_7806-19del ENSP00000369497.3:n.7806-21_7806-19del
ENST00000470094.2:c.7806-21_7806-19del ENSP00000434898.2:n.7806-21_7806-19del
ENST00000528762.2:c.7806-21_7806-19del ENSP00000433168.2:n.7806-21_7806-19del
ENST00000530893.7:c.7437-21_7437-19del ENSP00000499438.2:n.7437-21_7437-19del
ENST00000544455.5:c.7806-21_7806-19del ENSP00000439902.1:n.7806-21_7806-19del
ENST00000544455.6:c.7806-21_7806-19del ENSP00000439902.1:n.7806-21_7806-19del
ENST00000614259.1:n.7806-13_7806-11del
ENST00000614259.2:c.7806-13_7806-11del ENSP00000506251.1:n.7806-13_7806-11del
ENST00000665585.1:c.371-21_371-19del
ENST00000665585.2:c.7806-21_7806-19del ENSP00000499570.2:n.7806-21_7806-19del
ENST00000666593.2:c.7806-21_7806-19del ENSP00000499256.2:n.7806-21_7806-19del
ENST00000680887.1:c.7806-21_7806-19del ENSP00000505508.1:n.7806-21_7806-19del
ENST00000700202.1:c.273-21_273-19del ENSP00000514856.1:n.273-21_273-19del
ENST00000700202.2:c.7806-21_7806-19del ENSP00000514856.2:n.7806-21_7806-19del
XM_011535203.1:c.7806-21_7806-19del XP_011533505.1:n.7806-21_7806-19del
XM_011535204.1:c.7710-21_7710-19del XP_011533506.1:n.7710-21_7710-19del
XM_011535205.1:c.7806-21_7806-19del XP_011533507.1:n.7806-21_7806-19del