Canonical Allele Identifier: CA2260769219

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063362_43063365delinsACTG , CM000679.2:g.43063362_43063365delinsACTG	GRCh38
NC_000017.10:g.41215379_41215382delinsACTG , CM000679.1:g.41215379_41215382delinsACTG	GRCh37
NC_000017.9:g.38468905_38468908delinsACTG	NCBI36
NG_005905.2:g.154619_154622delinsCAGT , LRG_292:g.154619_154622delinsCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5158_5161delinsCAGT	ENSP00000417241.2:p.Gln1720=
ENST00000470026.6:c.5161_5164delinsCAGT	ENSP00000419274.2:p.Gln1721=
ENST00000473961.6:c.5035_5038delinsCAGT	ENSP00000420201.2:p.Gln1679=
ENST00000476777.6:c.5155_5158delinsCAGT	ENSP00000417554.2:p.Gln1719=
ENST00000477152.6:c.5083_5086delinsCAGT	ENSP00000419988.2:p.Gln1695=
ENST00000478531.6:c.1849_1852delinsCAGT	ENSP00000420412.2:p.Gln617=
ENST00000489037.2:c.5083_5086delinsCAGT	ENSP00000420781.2:p.Gln1695=
ENST00000493919.6:c.1711_1714delinsCAGT	ENSP00000418819.2:p.Gln571=
ENST00000494123.6:c.5161_5164delinsCAGT	ENSP00000419103.2:p.Gln1721=
ENST00000497488.2:c.4273_4276delinsCAGT	ENSP00000418986.2:p.Gln1425=
ENST00000618469.2:c.5161_5164delinsCAGT	ENSP00000478114.2:p.Gln1721=
ENST00000634433.2:c.5038_5041delinsCAGT	ENSP00000489431.2:p.Gln1680=
ENST00000644379.2:c.5227_5230delinsCAGT	ENSP00000496570.2:p.Gln1743=
ENST00000644555.2:c.1711_1714delinsCAGT	ENSP00000494614.2:p.Gln571=
ENST00000652672.2:c.5020_5023delinsCAGT	ENSP00000498906.2:p.Gln1674=
ENST00000484087.6:c.1723_1726delinsCAGT	ENSP00000419481.2:p.Gln575=
ENST00000357654.9:c.5161_5164delinsCAGT MANE Select	ENSP00000350283.3:p.Gln1721=
ENST00000471181.7:c.5224_5227delinsCAGT	ENSP00000418960.2:p.Gln1742=
ENST00000644379.1:c.1548_1551delinsCAGT
ENST00000352993.7:c.1735_1738delinsCAGT	ENSP00000312236.5:p.Gln579=
ENST00000357654.7:c.5161_5164delinsCAGT	ENSP00000350283.3:p.Gln1721=
ENST00000461221.5:c.*4944_*4947delinsCAGT	ENSP00000418548.1:n.*4944_*4947delinsCAGT
ENST00000468300.5:c.1849_1852delinsCAGT	ENSP00000417148.1:p.Gln617=
ENST00000471181.6:c.5224_5227delinsCAGT	ENSP00000418960.2:p.Gln1742=
ENST00000478531.5:c.1849_1852delinsCAGT	ENSP00000420412.1:p.Gln617=
ENST00000484087.5:c.1474_1477delinsCAGT	ENSP00000419481.1:p.Gln492=
ENST00000491747.6:c.1849_1852delinsCAGT	ENSP00000420705.2:p.Gln617=
ENST00000493795.5:c.5020_5023delinsCAGT	ENSP00000418775.1:p.Gln1674=
ENST00000493919.5:c.1711_1714delinsCAGT	ENSP00000418819.1:p.Gln571=
ENST00000586385.5:c.91_94delinsCAGT	ENSP00000465818.1:p.Gln31=
ENST00000591534.5:c.634_637delinsCAGT	ENSP00000467329.1:p.Gln212=
ENST00000591849.5:c.-98-13175_-98-13172delinsCAGT	ENSP00000465347.1:n.-98-13175_-98-13172delinsCAGT
NM_007294.3:c.5161_5164delinsCAGT , LRG_292t1:c.5161_5164delinsCAGT	NP_009225.1:p.Gln1721=
NM_007297.3:c.5020_5023delinsCAGT	NP_009228.2:p.Gln1674=
NM_007298.3:c.1849_1852delinsCAGT	NP_009229.2:p.Gln617=
NM_007299.3:c.1849_1852delinsCAGT	NP_009230.2:p.Gln617=
NM_007300.3:c.5224_5227delinsCAGT	NP_009231.2:p.Gln1742=
NR_027676.1:n.5297_5300delinsCAGT
NM_007294.4:c.5161_5164delinsCAGT MANE Select	NP_009225.1:p.Gln1721=
NM_007297.4:c.5020_5023delinsCAGT	NP_009228.2:p.Gln1674=
NM_007299.4:c.1849_1852delinsCAGT	NP_009230.2:p.Gln617=
NM_007300.4:c.5224_5227delinsCAGT	NP_009231.2:p.Gln1742=
NR_027676.2:n.5338_5341delinsCAGT