Canonical Allele Identifier: CA001773
Community Standard Title: NM_007294.4(BRCA1):c.269_281del (p.Ile90SerfsTer25)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43104891_43104903del , CM000679.2:g.43104891_43104903del GRCh38
NC_000017.10:g.41256908_41256920del , CM000679.1:g.41256908_41256920del GRCh37
NC_000017.9:g.38510434_38510446del NCBI36
NG_005905.2:g.113084_113096del , LRG_292:g.113084_113096del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.269_281del MANE Select NP_009225.1:p.Ile90SerfsTer25
ENST00000357654.9:c.269_281del MANE Select ENSP00000350283.3:p.Ile90SerfsTer25
NM_007294.3:c.269_281del , LRG_292t1:c.269_281del NP_009225.1:p.Ile90SerfsTer25
NM_007297.3:c.128_140del NP_009228.2:p.Ile43SerfsTer25
NM_007297.4:c.128_140del NP_009228.2:p.Ile43SerfsTer25
NM_007298.3:c.269_281del NP_009229.2:p.Ile90SerfsTer25
NM_007299.3:c.269_281del NP_009230.2:p.Ile90SerfsTer25
NM_007299.4:c.269_281del NP_009230.2:p.Ile90SerfsTer25
NM_007300.3:c.269_281del NP_009231.2:p.Ile90SerfsTer25
NM_007300.4:c.269_281del NP_009231.2:p.Ile90SerfsTer25
NR_027676.1:n.408_420del
NR_027676.2:n.449_461del
ENST00000352993.7:c.269_281del ENSP00000312236.5:p.Ile90SerfsTer25
ENST00000354071.7:c.269_281del ENSP00000326002.7:p.Ile90SerfsTer25
ENST00000354071.8:n.333_345del
ENST00000357654.7:c.269_281del ENSP00000350283.3:p.Ile90SerfsTer25
ENST00000461221.5:c.*55_*67del ENSP00000418548.1:n.*55_*67del
ENST00000461574.2:c.269_281del ENSP00000417241.2:p.Ile90SerfsTer25
ENST00000461798.5:c.*55_*67del ENSP00000417988.1:n.*55_*67del
ENST00000468300.5:c.269_281del ENSP00000417148.1:p.Ile90SerfsTer25
ENST00000470026.5:c.269_281del ENSP00000419274.1:p.Ile90SerfsTer25
ENST00000470026.6:c.269_281del ENSP00000419274.2:p.Ile90SerfsTer25
ENST00000471181.6:c.269_281del ENSP00000418960.2:p.Ile90SerfsTer25
ENST00000471181.7:c.269_281del ENSP00000418960.2:p.Ile90SerfsTer25
ENST00000473961.6:c.269_281del ENSP00000420201.2:p.Ile90SerfsTer25
ENST00000476777.5:c.269_281del ENSP00000417554.1:p.Ile90SerfsTer25
ENST00000476777.6:c.269_281del ENSP00000417554.2:p.Ile90SerfsTer25
ENST00000477152.5:c.191_203del ENSP00000419988.1:p.Ile64SerfsTer25
ENST00000477152.6:c.191_203del ENSP00000419988.2:p.Ile64SerfsTer25
ENST00000478531.5:c.269_281del ENSP00000420412.1:p.Ile90SerfsTer25
ENST00000478531.6:c.269_281del ENSP00000420412.2:p.Ile90SerfsTer25
ENST00000484087.5:c.17_29del ENSP00000419481.1:p.Ile6SerfsTer25
ENST00000484087.6:c.269_281del ENSP00000419481.2:p.Ile90SerfsTer25
ENST00000487825.5:c.17_29del ENSP00000418212.1:p.Ile6SerfsTer25
ENST00000489037.1:c.191_203del ENSP00000420781.1:p.Ile64SerfsTer25
ENST00000489037.2:c.191_203del ENSP00000420781.2:p.Ile64SerfsTer25
ENST00000491747.6:c.269_281del ENSP00000420705.2:p.Ile90SerfsTer25
ENST00000492859.5:c.*205_*217del ENSP00000420253.1:n.*205_*217del
ENST00000493795.5:c.128_140del ENSP00000418775.1:p.Ile43SerfsTer25
ENST00000493919.5:c.128_140del ENSP00000418819.1:p.Ile43SerfsTer25
ENST00000493919.6:c.128_140del ENSP00000418819.2:p.Ile43SerfsTer25
ENST00000494123.5:c.269_281del ENSP00000419103.1:p.Ile90SerfsTer25
ENST00000494123.6:c.269_281del ENSP00000419103.2:p.Ile90SerfsTer25
ENST00000497488.1:c.-218-10040_-218-10028del ENSP00000418986.1:n.-218-10040_-218-10028del
ENST00000497488.2:c.-218-10040_-218-10028del ENSP00000418986.2:n.-218-10040_-218-10028del
ENST00000586385.5:c.4+20282_4+20294del ENSP00000465818.1:n.4+20282_4+20294del
ENST00000591534.5:c.-44+20371_-44+20383del ENSP00000467329.1:n.-44+20371_-44+20383del
ENST00000591849.5:c.-99+20371_-99+20383del ENSP00000465347.1:n.-99+20371_-99+20383del
ENST00000618469.2:c.269_281del ENSP00000478114.2:p.Ile90SerfsTer25
ENST00000634433.1:c.269_281del ENSP00000489431.1:p.Ile90SerfsTer25
ENST00000634433.2:c.269_281del ENSP00000489431.2:p.Ile90SerfsTer25
ENST00000642945.1:c.*143_*155del ENSP00000495897.1:n.*143_*155del
ENST00000644379.2:c.269_281del ENSP00000496570.2:p.Ile90SerfsTer25
ENST00000644555.1:c.128_140del ENSP00000494614.1:p.Ile43SerfsTer?
ENST00000644555.2:c.128_140del ENSP00000494614.2:p.Ile43SerfsTer25
ENST00000652672.1:c.128_140del ENSP00000498906.1:p.Ile43SerfsTer25
ENST00000652672.2:c.128_140del ENSP00000498906.2:p.Ile43SerfsTer25
ENST00000700083.1:n.1240_1252del
ENST00000700182.1:c.191_203del ENSP00000514849.1:p.Ile64SerfsTer25
ENST00000700183.1:c.*183_*195del ENSP00000514850.1:n.*183_*195del
ENST00000700184.1:n.512_524del