Canonical Allele Identifier: CA001807
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54668

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092786_43092787del , CM000679.2:g.43092786_43092787del GRCh38
NC_000017.10:g.41244803_41244804del , CM000679.1:g.41244803_41244804del GRCh37
NC_000017.9:g.38498329_38498330del NCBI36
NG_005905.2:g.125196_125197del , LRG_292:g.125196_125197del

Transcript Alleles

HGVS Amino-acid change
ENST00000352993.7:c.671-1756_671-1755del ENSP00000312236.5:p.=
ENST00000354071.7:c.2743_2744del ENSP00000326002.7:p.Ser915Ter
ENST00000357654.7:c.2743_2744del ENSP00000350283.3:p.Ser915Ter
ENST00000461221.5:c.*2526_*2527del ENSP00000418548.1:p.=
ENST00000468300.5:c.788-1756_788-1755del ENSP00000417148.1:p.=
ENST00000471181.6:c.2743_2744del ENSP00000418960.2:p.Ser915Ter
ENST00000478531.5:c.785-1756_785-1755del ENSP00000420412.1:p.=
ENST00000484087.5:n.410-1756_410-1755del ENSP00000419481.1:p.=
ENST00000487825.5:n.413-1756_413-1755del ENSP00000418212.1:p.=
ENST00000491747.6:c.788-1756_788-1755del ENSP00000420705.2:p.=
ENST00000493795.5:c.2602_2603del ENSP00000418775.1:p.Ser868Ter
ENST00000493919.5:c.647-1756_647-1755del ENSP00000418819.1:p.=
ENST00000586385.5:c.5-28837_5-28836del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-18267_-43-18266del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+32483_-99+32484del ENSP00000465347.1:p.=
NM_007294.3:c.2743_2744del , LRG_292t1:c.2743_2744del NP_009225.1:p.Ser915Ter
NM_007297.3:c.2602_2603del NP_009228.2:p.Ser868Ter
NM_007298.3:c.788-1756_788-1755del NP_009229.2:p.=
NM_007299.3:c.788-1756_788-1755del NP_009230.2:p.=
NM_007300.3:c.2743_2744del NP_009231.2:p.Ser915Ter
NM_007294.4:c.2743_2744del MANE Select NP_009225.1:p.Ser915Ter
NM_007297.4:c.2602_2603del NP_009228.2:p.Ser868Ter
NM_007299.4:c.788-1756_788-1755del NP_009230.2:p.=
NM_007300.4:c.2743_2744del NP_009231.2:p.Ser915Ter