Canonical Allele Identifier: CA2260783105

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092837_43092844delinsTTTTGGAC , CM000679.2:g.43092837_43092844delinsTTTTGGAC	GRCh38
NC_000017.10:g.41244854_41244861delinsTTTTGGAC , CM000679.1:g.41244854_41244861delinsTTTTGGAC	GRCh37
NC_000017.9:g.38498380_38498387delinsTTTTGGAC	NCBI36
NG_005905.2:g.125140_125147delinsGTCCAAAA , LRG_292:g.125140_125147delinsGTCCAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2751_2758delinsGTCCAAAA
ENST00000461574.2:c.2687_2694delinsGTCCAAAA	ENSP00000417241.2:p.Ser896=
ENST00000470026.6:c.2687_2694delinsGTCCAAAA	ENSP00000419274.2:p.Ser896=
ENST00000473961.6:c.2561_2568delinsGTCCAAAA	ENSP00000420201.2:p.Ser854=
ENST00000476777.6:c.2684_2691delinsGTCCAAAA	ENSP00000417554.2:p.Ser895=
ENST00000477152.6:c.2609_2616delinsGTCCAAAA	ENSP00000419988.2:p.Ser870=
ENST00000478531.6:c.785-1812_785-1805delinsGTCCAAAA	ENSP00000420412.2:n.785-1812_785-1805deli...
ENST00000489037.2:c.2609_2616delinsGTCCAAAA	ENSP00000420781.2:p.Ser870=
ENST00000493919.6:c.647-1812_647-1805delinsGTCCAAAA	ENSP00000418819.2:n.647-1812_647-1805deli...
ENST00000494123.6:c.2687_2694delinsGTCCAAAA	ENSP00000419103.2:p.Ser896=
ENST00000497488.2:c.1799_1806delinsGTCCAAAA	ENSP00000418986.2:p.Ser600=
ENST00000618469.2:c.2687_2694delinsGTCCAAAA	ENSP00000478114.2:p.Ser896=
ENST00000634433.2:c.2564_2571delinsGTCCAAAA	ENSP00000489431.2:p.Ser855=
ENST00000644379.2:c.2687_2694delinsGTCCAAAA	ENSP00000496570.2:p.Ser896=
ENST00000644555.2:c.647-1812_647-1805delinsGTCCAAAA	ENSP00000494614.2:n.647-1812_647-1805deli...
ENST00000652672.2:c.2546_2553delinsGTCCAAAA	ENSP00000498906.2:p.Ser849=
ENST00000484087.6:c.665-1812_665-1805delinsGTCCAAAA	ENSP00000419481.2:n.665-1812_665-1805deli...
ENST00000700182.1:c.707-1812_707-1805delinsGTCCAAAA	ENSP00000514849.1:n.707-1812_707-1805deli...
ENST00000357654.9:c.2687_2694delinsGTCCAAAA MANE Select	ENSP00000350283.3:p.Ser896=
ENST00000471181.7:c.2687_2694delinsGTCCAAAA	ENSP00000418960.2:p.Ser896=
ENST00000352993.7:c.671-1812_671-1805delinsGTCCAAAA	ENSP00000312236.5:n.671-1812_671-1805deli...
ENST00000354071.7:c.2687_2694delinsGTCCAAAA	ENSP00000326002.7:p.Ser896=
ENST00000357654.7:c.2687_2694delinsGTCCAAAA	ENSP00000350283.3:p.Ser896=
ENST00000461221.5:c.*2470_*2477delinsGTCCAAAA	ENSP00000418548.1:n.*2470_*2477delinsGTCC...
ENST00000468300.5:c.788-1812_788-1805delinsGTCCAAAA	ENSP00000417148.1:n.788-1812_788-1805deli...
ENST00000471181.6:c.2687_2694delinsGTCCAAAA	ENSP00000418960.2:p.Ser896=
ENST00000478531.5:c.785-1812_785-1805delinsGTCCAAAA	ENSP00000420412.1:n.785-1812_785-1805deli...
ENST00000484087.5:c.410-1812_410-1805delinsGTCCAAAA	ENSP00000419481.1:n.410-1812_410-1805deli...
ENST00000487825.5:c.413-1812_413-1805delinsGTCCAAAA	ENSP00000418212.1:n.413-1812_413-1805deli...
ENST00000491747.6:c.788-1812_788-1805delinsGTCCAAAA	ENSP00000420705.2:n.788-1812_788-1805deli...
ENST00000493795.5:c.2546_2553delinsGTCCAAAA	ENSP00000418775.1:p.Ser849=
ENST00000493919.5:c.647-1812_647-1805delinsGTCCAAAA	ENSP00000418819.1:n.647-1812_647-1805deli...
ENST00000586385.5:c.5-28893_5-28886delinsGTCCAAAA	ENSP00000465818.1:n.5-28893_5-28886delins...
ENST00000591534.5:c.-43-18323_-43-18316delinsGTCCAAAA	ENSP00000467329.1:n.-43-18323_-43-18316de...
ENST00000591849.5:c.-99+32427_-99+32434delinsGTCCAAAA	ENSP00000465347.1:n.-99+32427_-99+32434de...
NM_007294.3:c.2687_2694delinsGTCCAAAA , LRG_292t1:c.2687_2694delinsGTCCAAAA	NP_009225.1:p.Ser896=
NM_007297.3:c.2546_2553delinsGTCCAAAA	NP_009228.2:p.Ser849=
NM_007298.3:c.788-1812_788-1805delinsGTCCAAAA	NP_009229.2:n.788-1812_788-1805delinsGTCC...
NM_007299.3:c.788-1812_788-1805delinsGTCCAAAA	NP_009230.2:n.788-1812_788-1805delinsGTCC...
NM_007300.3:c.2687_2694delinsGTCCAAAA	NP_009231.2:p.Ser896=
NR_027676.1:n.2823_2830delinsGTCCAAAA
NM_007294.4:c.2687_2694delinsGTCCAAAA MANE Select	NP_009225.1:p.Ser896=
NM_007297.4:c.2546_2553delinsGTCCAAAA	NP_009228.2:p.Ser849=
NM_007299.4:c.788-1812_788-1805delinsGTCCAAAA	NP_009230.2:n.788-1812_788-1805delinsGTCC...
NM_007300.4:c.2687_2694delinsGTCCAAAA	NP_009231.2:p.Ser896=
NR_027676.2:n.2864_2871delinsGTCCAAAA