Canonical Allele Identifier: CA2260782523
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092018_43092019delinsCT , CM000679.2:g.43092018_43092019delinsCT GRCh38
NC_000017.10:g.41244035_41244036delinsCT , CM000679.1:g.41244035_41244036delinsCT GRCh37
NC_000017.9:g.38497561_38497562delinsCT NCBI36
NG_005905.2:g.125965_125966delinsAG , LRG_292:g.125965_125966delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3576_3577delinsAG
ENST00000461574.2:c.3512_3513delinsAG ENSP00000417241.2:p.Lys1171=
ENST00000470026.6:c.3512_3513delinsAG ENSP00000419274.2:p.Lys1171=
ENST00000473961.6:c.3386_3387delinsAG ENSP00000420201.2:p.Lys1129=
ENST00000476777.6:c.3509_3510delinsAG ENSP00000417554.2:p.Lys1170=
ENST00000477152.6:c.3434_3435delinsAG ENSP00000419988.2:p.Lys1145=
ENST00000478531.6:c.785-987_785-986delinsAG ENSP00000420412.2:n.785-987_785-986delins...
ENST00000489037.2:c.3434_3435delinsAG ENSP00000420781.2:p.Lys1145=
ENST00000493919.6:c.647-987_647-986delinsAG ENSP00000418819.2:n.647-987_647-986delins...
ENST00000494123.6:c.3512_3513delinsAG ENSP00000419103.2:p.Lys1171=
ENST00000497488.2:c.2624_2625delinsAG ENSP00000418986.2:p.Lys875=
ENST00000618469.2:c.3512_3513delinsAG ENSP00000478114.2:p.Lys1171=
ENST00000634433.2:c.3389_3390delinsAG ENSP00000489431.2:p.Lys1130=
ENST00000644379.2:c.3512_3513delinsAG ENSP00000496570.2:p.Lys1171=
ENST00000644555.2:c.647-987_647-986delinsAG ENSP00000494614.2:n.647-987_647-986delins...
ENST00000652672.2:c.3371_3372delinsAG ENSP00000498906.2:p.Lys1124=
ENST00000484087.6:c.665-987_665-986delinsAG ENSP00000419481.2:n.665-987_665-986delins...
ENST00000700182.1:c.707-987_707-986delinsAG ENSP00000514849.1:n.707-987_707-986delins...
ENST00000357654.9:c.3512_3513delinsAG MANE Select ENSP00000350283.3:p.Lys1171=
ENST00000471181.7:c.3512_3513delinsAG ENSP00000418960.2:p.Lys1171=
ENST00000352993.7:c.671-987_671-986delinsAG ENSP00000312236.5:n.671-987_671-986delins...
ENST00000354071.7:c.3512_3513delinsAG ENSP00000326002.7:p.Lys1171=
ENST00000357654.7:c.3512_3513delinsAG ENSP00000350283.3:p.Lys1171=
ENST00000461221.5:c.*3295_*3296delinsAG ENSP00000418548.1:n.*3295_*3296delinsAG
ENST00000468300.5:c.788-987_788-986delinsAG ENSP00000417148.1:n.788-987_788-986delins...
ENST00000471181.6:c.3512_3513delinsAG ENSP00000418960.2:p.Lys1171=
ENST00000478531.5:c.785-987_785-986delinsAG ENSP00000420412.1:n.785-987_785-986delins...
ENST00000484087.5:c.410-987_410-986delinsAG ENSP00000419481.1:n.410-987_410-986delins...
ENST00000487825.5:c.413-987_413-986delinsAG ENSP00000418212.1:n.413-987_413-986delins...
ENST00000491747.6:c.788-987_788-986delinsAG ENSP00000420705.2:n.788-987_788-986delins...
ENST00000493795.5:c.3371_3372delinsAG ENSP00000418775.1:p.Lys1124=
ENST00000493919.5:c.647-987_647-986delinsAG ENSP00000418819.1:n.647-987_647-986delins...
ENST00000586385.5:c.5-28068_5-28067delinsAG ENSP00000465818.1:n.5-28068_5-28067delins...
ENST00000591534.5:c.-43-17498_-43-17497delinsAG ENSP00000467329.1:n.-43-17498_-43-17497de...
ENST00000591849.5:c.-99+33252_-99+33253delinsAG ENSP00000465347.1:n.-99+33252_-99+33253de...
NM_007294.3:c.3512_3513delinsAG , LRG_292t1:c.3512_3513delinsAG NP_009225.1:p.Lys1171=
NM_007297.3:c.3371_3372delinsAG NP_009228.2:p.Lys1124=
NM_007298.3:c.788-987_788-986delinsAG NP_009229.2:n.788-987_788-986delinsAG
NM_007299.3:c.788-987_788-986delinsAG NP_009230.2:n.788-987_788-986delinsAG
NM_007300.3:c.3512_3513delinsAG NP_009231.2:p.Lys1171=
NR_027676.1:n.3648_3649delinsAG
NM_007294.4:c.3512_3513delinsAG MANE Select NP_009225.1:p.Lys1171=
NM_007297.4:c.3371_3372delinsAG NP_009228.2:p.Lys1124=
NM_007299.4:c.788-987_788-986delinsAG NP_009230.2:n.788-987_788-986delinsAG
NM_007300.4:c.3512_3513delinsAG NP_009231.2:p.Lys1171=
NR_027676.2:n.3689_3690delinsAG