Canonical Allele Identifier: CA2260773037

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071234_43071236delinsTCC , CM000679.2:g.43071234_43071236delinsTCC	GRCh38
NC_000017.10:g.41223251_41223253delinsTCC , CM000679.1:g.41223251_41223253delinsTCC	GRCh37
NC_000017.9:g.38476777_38476779delinsTCC	NCBI36
NG_005905.2:g.146748_146750delinsGGA , LRG_292:g.146748_146750delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4678_4680delinsGGA MANE Select	NP_009225.1:p.Gly1560=
ENST00000357654.9:c.4678_4680delinsGGA MANE Select	ENSP00000350283.3:p.Gly1560=
NM_007294.3:c.4678_4680delinsGGA , LRG_292t1:c.4678_4680delinsGGA	NP_009225.1:p.Gly1560=
NM_007297.3:c.4537_4539delinsGGA	NP_009228.2:p.Gly1513=
NM_007297.4:c.4537_4539delinsGGA	NP_009228.2:p.Gly1513=
NM_007298.3:c.1366_1368delinsGGA	NP_009229.2:p.Gly456=
NM_007299.3:c.1366_1368delinsGGA	NP_009230.2:p.Gly456=
NM_007299.4:c.1366_1368delinsGGA	NP_009230.2:p.Gly456=
NM_007300.3:c.4741_4743delinsGGA	NP_009231.2:p.Gly1581=
NM_007300.4:c.4741_4743delinsGGA	NP_009231.2:p.Gly1581=
NR_027676.1:n.4814_4816delinsGGA
NR_027676.2:n.4855_4857delinsGGA
ENST00000352993.7:c.1252_1254delinsGGA	ENSP00000312236.5:p.Gly418=
ENST00000357654.7:c.4678_4680delinsGGA	ENSP00000350283.3:p.Gly1560=
ENST00000461221.5:c.*4461_*4463delinsGGA	ENSP00000418548.1:n.*4461_*4463delinsGGA
ENST00000461574.2:c.4675_4677delinsGGA	ENSP00000417241.2:p.Gly1559=
ENST00000468300.5:c.1366_1368delinsGGA	ENSP00000417148.1:p.Gly456=
ENST00000470026.6:c.4678_4680delinsGGA	ENSP00000419274.2:p.Gly1560=
ENST00000471181.6:c.4741_4743delinsGGA	ENSP00000418960.2:p.Gly1581=
ENST00000471181.7:c.4741_4743delinsGGA	ENSP00000418960.2:p.Gly1581=
ENST00000473961.6:c.4552_4554delinsGGA	ENSP00000420201.2:p.Gly1518=
ENST00000476777.6:c.4672_4674delinsGGA	ENSP00000417554.2:p.Gly1558=
ENST00000477152.6:c.4600_4602delinsGGA	ENSP00000419988.2:p.Gly1534=
ENST00000478531.5:c.1366_1368delinsGGA	ENSP00000420412.1:p.Gly456=
ENST00000478531.6:c.1366_1368delinsGGA	ENSP00000420412.2:p.Gly456=
ENST00000484087.5:c.991_993delinsGGA	ENSP00000419481.1:p.Gly331=
ENST00000484087.6:c.1240_1242delinsGGA	ENSP00000419481.2:p.Gly414=
ENST00000489037.2:c.4600_4602delinsGGA	ENSP00000420781.2:p.Gly1534=
ENST00000491747.6:c.1366_1368delinsGGA	ENSP00000420705.2:p.Gly456=
ENST00000493795.5:c.4537_4539delinsGGA	ENSP00000418775.1:p.Gly1513=
ENST00000493919.5:c.1228_1230delinsGGA	ENSP00000418819.1:p.Gly410=
ENST00000493919.6:c.1228_1230delinsGGA	ENSP00000418819.2:p.Gly410=
ENST00000494123.6:c.4678_4680delinsGGA	ENSP00000419103.2:p.Gly1560=
ENST00000497488.2:c.3790_3792delinsGGA	ENSP00000418986.2:p.Gly1264=
ENST00000586385.5:c.5-7285_5-7283delinsGGA	ENSP00000465818.1:n.5-7285_5-7283delinsGGA
ENST00000591534.5:c.151_153delinsGGA	ENSP00000467329.1:p.Gly51=
ENST00000591849.5:c.-98-21046_-98-21044delinsGGA	ENSP00000465347.1:n.-98-21046_-98-21044delinsGGA
ENST00000618469.2:c.4678_4680delinsGGA	ENSP00000478114.2:p.Gly1560=
ENST00000634433.2:c.4555_4557delinsGGA	ENSP00000489431.2:p.Gly1519=
ENST00000644379.1:c.1065_1067delinsGGA
ENST00000644379.2:c.4744_4746delinsGGA	ENSP00000496570.2:p.Gly1582=
ENST00000644555.2:c.1228_1230delinsGGA	ENSP00000494614.2:p.Gly410=
ENST00000652672.2:c.4537_4539delinsGGA	ENSP00000498906.2:p.Gly1513=
ENST00000700182.1:c.1285_1287delinsGGA	ENSP00000514849.1:p.Gly429=