Canonical Allele Identifier: CA2260790308
Gene: BRCA1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43104083_43104092delinsAAAGAAGAAG , CM000679.2:g.43104083_43104092delinsAAAGAAGAAG GRCh38
NC_000017.10:g.41256100_41256109delinsAAAGAAGAAG , CM000679.1:g.41256100_41256109delinsAAAGAAGAAG GRCh37
NC_000017.9:g.38509626_38509635delinsAAAGAAGAAG NCBI36
NG_005905.2:g.113892_113901delinsCTTCTTCTTT , LRG_292:g.113892_113901delinsCTTCTTCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.505+30_505+39delinsCTTCTTCTTT
ENST00000461574.2:c.441+30_441+39delinsCTTCTTCTTT ENSP00000417241.2:n.441+30_441+39delinsCTTCTTCTTT
ENST00000470026.6:c.441+30_441+39delinsCTTCTTCTTT ENSP00000419274.2:n.441+30_441+39delinsCTTCTTCTTT
ENST00000473961.6:c.441+30_441+39delinsCTTCTTCTTT ENSP00000420201.2:n.441+30_441+39delinsCTTCTTCTTT
ENST00000476777.6:c.441+30_441+39delinsCTTCTTCTTT ENSP00000417554.2:n.441+30_441+39delinsCTTCTTCTTT
ENST00000477152.6:c.363+30_363+39delinsCTTCTTCTTT ENSP00000419988.2:n.363+30_363+39delinsCTTCTTCTTT
ENST00000478531.6:c.441+30_441+39delinsCTTCTTCTTT ENSP00000420412.2:n.441+30_441+39delinsCTTCTTCTTT
ENST00000489037.2:c.363+30_363+39delinsCTTCTTCTTT ENSP00000420781.2:n.363+30_363+39delinsCTTCTTCTTT
ENST00000493919.6:c.300+30_300+39delinsCTTCTTCTTT ENSP00000418819.2:n.300+30_300+39delinsCTTCTTCTTT
ENST00000494123.6:c.441+30_441+39delinsCTTCTTCTTT ENSP00000419103.2:n.441+30_441+39delinsCTTCTTCTTT
ENST00000497488.2:c.-218-9232_-218-9223delinsCTTCTTCTTT ENSP00000418986.2:n.-218-9232_-218-9223delinsCTTCTTCTTT
ENST00000618469.2:c.441+30_441+39delinsCTTCTTCTTT ENSP00000478114.2:n.441+30_441+39delinsCTTCTTCTTT
ENST00000634433.2:c.441+30_441+39delinsCTTCTTCTTT ENSP00000489431.2:n.441+30_441+39delinsCTTCTTCTTT
ENST00000644379.2:c.441+30_441+39delinsCTTCTTCTTT ENSP00000496570.2:n.441+30_441+39delinsCTTCTTCTTT
ENST00000644555.2:c.300+30_300+39delinsCTTCTTCTTT ENSP00000494614.2:n.300+30_300+39delinsCTTCTTCTTT
ENST00000652672.2:c.300+30_300+39delinsCTTCTTCTTT ENSP00000498906.2:n.300+30_300+39delinsCTTCTTCTTT
ENST00000484087.6:c.441+30_441+39delinsCTTCTTCTTT ENSP00000419481.2:n.441+30_441+39delinsCTTCTTCTTT
ENST00000700182.1:c.363+30_363+39delinsCTTCTTCTTT ENSP00000514849.1:n.363+30_363+39delinsCTTCTTCTTT
ENST00000700183.1:c.*355+30_*355+39delinsCTTCTTCTTT ENSP00000514850.1:n.*355+30_*355+39delinsCTTCTTCTTT
ENST00000700184.1:n.684+30_684+39delinsCTTCTTCTTT
ENST00000357654.9:c.441+30_441+39delinsCTTCTTCTTT MANE Select ENSP00000350283.3:n.441+30_441+39delinsCTTCTTCTTT
ENST00000471181.7:c.441+30_441+39delinsCTTCTTCTTT ENSP00000418960.2:n.441+30_441+39delinsCTTCTTCTTT
ENST00000642945.1:c.*315+30_*315+39delinsCTTCTTCTTT ENSP00000495897.1:n.*315+30_*315+39delinsCTTCTTCTTT
ENST00000652672.1:c.300+30_300+39delinsCTTCTTCTTT ENSP00000498906.1:n.300+30_300+39delinsCTTCTTCTTT
ENST00000352993.7:c.441+30_441+39delinsCTTCTTCTTT ENSP00000312236.5:n.441+30_441+39delinsCTTCTTCTTT
ENST00000354071.7:c.441+30_441+39delinsCTTCTTCTTT ENSP00000326002.7:n.441+30_441+39delinsCTTCTTCTTT
ENST00000357654.7:c.441+30_441+39delinsCTTCTTCTTT ENSP00000350283.3:n.441+30_441+39delinsCTTCTTCTTT
ENST00000461221.5:c.*227+30_*227+39delinsCTTCTTCTTT ENSP00000418548.1:n.*227+30_*227+39delinsCTTCTTCTTT
ENST00000461798.5:c.*227+30_*227+39delinsCTTCTTCTTT ENSP00000417988.1:n.*227+30_*227+39delinsCTTCTTCTTT
ENST00000468300.5:c.441+30_441+39delinsCTTCTTCTTT ENSP00000417148.1:n.441+30_441+39delinsCTTCTTCTTT
ENST00000470026.5:c.441+30_441+39delinsCTTCTTCTTT ENSP00000419274.1:n.441+30_441+39delinsCTTCTTCTTT
ENST00000471181.6:c.441+30_441+39delinsCTTCTTCTTT ENSP00000418960.2:n.441+30_441+39delinsCTTCTTCTTT
ENST00000473961.5:c.164+30_164+39delinsCTTCTTCTTT
ENST00000476777.5:c.441+30_441+39delinsCTTCTTCTTT ENSP00000417554.1:n.441+30_441+39delinsCTTCTTCTTT
ENST00000477152.5:c.363+30_363+39delinsCTTCTTCTTT ENSP00000419988.1:n.363+30_363+39delinsCTTCTTCTTT
ENST00000478531.5:c.441+30_441+39delinsCTTCTTCTTT ENSP00000420412.1:n.441+30_441+39delinsCTTCTTCTTT
ENST00000484087.5:c.189+30_189+39delinsCTTCTTCTTT ENSP00000419481.1:n.189+30_189+39delinsCTTCTTCTTT
ENST00000487825.5:c.189+30_189+39delinsCTTCTTCTTT ENSP00000418212.1:n.189+30_189+39delinsCTTCTTCTTT
ENST00000491747.6:c.441+30_441+39delinsCTTCTTCTTT ENSP00000420705.2:n.441+30_441+39delinsCTTCTTCTTT
ENST00000492859.5:c.*377+30_*377+39delinsCTTCTTCTTT ENSP00000420253.1:n.*377+30_*377+39delinsCTTCTTCTTT
ENST00000493795.5:c.300+30_300+39delinsCTTCTTCTTT ENSP00000418775.1:n.300+30_300+39delinsCTTCTTCTTT
ENST00000493919.5:c.300+30_300+39delinsCTTCTTCTTT ENSP00000418819.1:n.300+30_300+39delinsCTTCTTCTTT
ENST00000494123.5:c.441+30_441+39delinsCTTCTTCTTT ENSP00000419103.1:n.441+30_441+39delinsCTTCTTCTTT
ENST00000497488.1:c.-218-9232_-218-9223delinsCTTCTTCTTT ENSP00000418986.1:n.-218-9232_-218-9223delinsCTTCTTCTTT
ENST00000586385.5:c.4+21090_4+21099delinsCTTCTTCTTT ENSP00000465818.1:n.4+21090_4+21099delinsCTTCTTCTTT
ENST00000591534.5:c.-44+21179_-44+21188delinsCTTCTTCTTT ENSP00000467329.1:n.-44+21179_-44+21188delinsCTTCTTCTTT
ENST00000591849.5:c.-99+21179_-99+21188delinsCTTCTTCTTT ENSP00000465347.1:n.-99+21179_-99+21188delinsCTTCTTCTTT
ENST00000634433.1:c.441+30_441+39delinsCTTCTTCTTT ENSP00000489431.1:n.441+30_441+39delinsCTTCTTCTTT
NM_007294.3:c.441+30_441+39delinsCTTCTTCTTT , LRG_292t1:c.441+30_441+39delinsCTTCTTCTTT NP_009225.1:n.441+30_441+39delinsCTTCTTCTTT
NM_007297.3:c.300+30_300+39delinsCTTCTTCTTT NP_009228.2:n.300+30_300+39delinsCTTCTTCTTT
NM_007298.3:c.441+30_441+39delinsCTTCTTCTTT NP_009229.2:n.441+30_441+39delinsCTTCTTCTTT
NM_007299.3:c.441+30_441+39delinsCTTCTTCTTT NP_009230.2:n.441+30_441+39delinsCTTCTTCTTT
NM_007300.3:c.441+30_441+39delinsCTTCTTCTTT NP_009231.2:n.441+30_441+39delinsCTTCTTCTTT
NR_027676.1:n.580+30_580+39delinsCTTCTTCTTT
NM_007294.4:c.441+30_441+39delinsCTTCTTCTTT MANE Select NP_009225.1:n.441+30_441+39delinsCTTCTTCTTT
NM_007297.4:c.300+30_300+39delinsCTTCTTCTTT NP_009228.2:n.300+30_300+39delinsCTTCTTCTTT
NM_007299.4:c.441+30_441+39delinsCTTCTTCTTT NP_009230.2:n.441+30_441+39delinsCTTCTTCTTT
NM_007300.4:c.441+30_441+39delinsCTTCTTCTTT NP_009231.2:n.441+30_441+39delinsCTTCTTCTTT
NR_027676.2:n.621+30_621+39delinsCTTCTTCTTT
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