Canonical Allele Identifier: CA10588564
Community Standard Title: NM_000059.4(BRCA2):c.4562_4563delinsCG (p.Leu1521Pro)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32338917_32338918delinsCG , CM000675.2:g.32338917_32338918delinsCG GRCh38
NC_000013.10:g.32913054_32913055delinsCG , CM000675.1:g.32913054_32913055delinsCG GRCh37
NC_000013.9:g.31811054_31811055delinsCG NCBI36
NG_012772.3:g.28438_28439delinsCG , LRG_293:g.28438_28439delinsCG

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.4562_4563delinsCG MANE Select NP_000050.3:p.Leu1521Pro
ENST00000380152.8:c.4562_4563delinsCG MANE Select ENSP00000369497.3:p.Leu1521Pro
NM_000059.3:c.4562_4563delinsCG , LRG_293t1:c.4562_4563delinsCG NP_000050.2:p.Leu1521Pro
ENST00000380152.7:c.4562_4563delinsCG ENSP00000369497.3:p.Leu1521Pro
ENST00000470094.2:c.4562_4563delinsCG ENSP00000434898.2:p.Leu1521Pro
ENST00000528762.2:c.4562_4563delinsCG ENSP00000433168.2:p.Leu1521Pro
ENST00000530893.7:c.4193_4194delinsCG ENSP00000499438.2:p.Leu1398Pro
ENST00000544455.5:c.4562_4563delinsCG ENSP00000439902.1:p.Leu1521Pro
ENST00000544455.6:c.4562_4563delinsCG ENSP00000439902.1:p.Leu1521Pro
ENST00000614259.1:n.4562_4563delinsCG
ENST00000614259.2:c.4562_4563delinsCG ENSP00000506251.1:p.Leu1521Pro
ENST00000665585.2:c.4562_4563delinsCG ENSP00000499570.2:p.Leu1521Pro
ENST00000666593.2:c.4562_4563delinsCG ENSP00000499256.2:p.Leu1521Pro
ENST00000680887.1:c.4562_4563delinsCG ENSP00000505508.1:p.Leu1521Pro
ENST00000700202.2:c.4562_4563delinsCG ENSP00000514856.2:p.Leu1521Pro
XM_011535203.1:c.4562_4563delinsCG XP_011533505.1:p.Leu1521Pro
XM_011535204.1:c.4562_4563delinsCG XP_011533506.1:p.Leu1521Pro
XM_011535205.1:c.4562_4563delinsCG XP_011533507.1:p.Leu1521Pro