Canonical Allele Identifier: CA2260761043

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045713_43045733delinsAGGTGTCCAGCTCCTGGCACT , CM000679.2:g.43045713_43045733delinsAGGTGTCCAGCTCCTGGCACT	GRCh38
NC_000017.10:g.41197730_41197750delinsAGGTGTCCAGCTCCTGGCACT , CM000679.1:g.41197730_41197750delinsAGGTGTCCAGCTCCTGGCACT	GRCh37
NC_000017.9:g.38451256_38451276delinsAGGTGTCCAGCTCCTGGCACT	NCBI36
NG_005905.2:g.172251_172271delinsAGTGCCAGGAGCTGGACACCT , LRG_292:g.172251_172271delinsAGTGCCAGGAGCTGGACACCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5534_5554delinsAGTGCCAGGAGCTGGACACCT	ENSP00000417241.2:p.Gln1845=
ENST00000470026.6:c.5537_5557delinsAGTGCCAGGAGCTGGACACCT	ENSP00000419274.2:p.Gln1846=
ENST00000473961.6:c.5411_5431delinsAGTGCCAGGAGCTGGACACCT	ENSP00000420201.2:p.Gln1804=
ENST00000476777.6:c.5531_5551delinsAGTGCCAGGAGCTGGACACCT	ENSP00000417554.2:p.Gln1844=
ENST00000477152.6:c.5459_5479delinsAGTGCCAGGAGCTGGACACCT	ENSP00000419988.2:p.Gln1820=
ENST00000478531.6:c.2225_2245delinsAGTGCCAGGAGCTGGACACCT	ENSP00000420412.2:p.Gln742=
ENST00000489037.2:c.5459_5479delinsAGTGCCAGGAGCTGGACACCT	ENSP00000420781.2:p.Gln1820=
ENST00000493919.6:c.2087_2107delinsAGTGCCAGGAGCTGGACACCT	ENSP00000418819.2:p.Gln696=
ENST00000494123.6:c.5537_5557delinsAGTGCCAGGAGCTGGACACCT	ENSP00000419103.2:p.Gln1846=
ENST00000497488.2:c.4649_4669delinsAGTGCCAGGAGCTGGACACCT	ENSP00000418986.2:p.Gln1550=
ENST00000618469.2:c.5537_5557delinsAGTGCCAGGAGCTGGACACCT	ENSP00000478114.2:p.Gln1846=
ENST00000634433.2:c.5414_5434delinsAGTGCCAGGAGCTGGACACCT	ENSP00000489431.2:p.Gln1805=
ENST00000644379.2:c.5603_5623delinsAGTGCCAGGAGCTGGACACCT	ENSP00000496570.2:p.Gln1868=
ENST00000644555.2:c.2087_2107delinsAGTGCCAGGAGCTGGACACCT	ENSP00000494614.2:p.Gln696=
ENST00000652672.2:c.5396_5416delinsAGTGCCAGGAGCTGGACACCT	ENSP00000498906.2:p.Gln1799=
ENST00000484087.6:c.2099_2119delinsAGTGCCAGGAGCTGGACACCT	ENSP00000419481.2:p.Gln700=
ENST00000700081.1:n.1420_1440delinsAGTGCCAGGAGCTGGACACCT
ENST00000700082.1:n.901_921delinsAGTGCCAGGAGCTGGACACCT
ENST00000357654.9:c.5537_5557delinsAGTGCCAGGAGCTGGACACCT MANE Select	ENSP00000350283.3:p.Gln1846=
ENST00000471181.7:c.5600_5620delinsAGTGCCAGGAGCTGGACACCT	ENSP00000418960.2:p.Gln1867=
ENST00000644379.1:c.1924_1944delinsAGTGCCAGGAGCTGGACACCT
ENST00000352993.7:c.2111_2131delinsAGTGCCAGGAGCTGGACACCT	ENSP00000312236.5:p.Gln704=
ENST00000357654.7:c.5537_5557delinsAGTGCCAGGAGCTGGACACCT	ENSP00000350283.3:p.Gln1846=
ENST00000461221.5:c.*5320_*5340delinsAGTGCCAGGAGCTGGACACCT	ENSP00000418548.1:n.*5320_*5340delinsAGTG...
ENST00000468300.5:c.*51_*71delinsAGTGCCAGGAGCTGGACACCT	ENSP00000417148.1:n.*51_*71delinsAGTGCCAG...
ENST00000471181.6:c.5600_5620delinsAGTGCCAGGAGCTGGACACCT	ENSP00000418960.2:p.Gln1867=
ENST00000491747.6:c.2225_2245delinsAGTGCCAGGAGCTGGACACCT	ENSP00000420705.2:p.Gln742=
ENST00000493795.5:c.5396_5416delinsAGTGCCAGGAGCTGGACACCT	ENSP00000418775.1:p.Gln1799=
ENST00000586385.5:c.467_487delinsAGTGCCAGGAGCTGGACACCT	ENSP00000465818.1:p.Gln156=
ENST00000591534.5:c.1010_1030delinsAGTGCCAGGAGCTGGACACCT	ENSP00000467329.1:p.Gln337=
ENST00000591849.5:c.236_256delinsAGTGCCAGGAGCTGGACACCT	ENSP00000465347.1:p.Gln79=
NM_007294.3:c.5537_5557delinsAGTGCCAGGAGCTGGACACCT , LRG_292t1:c.5537_5557delinsAGTGCCAGGAGCTGGACACCT	NP_009225.1:p.Gln1846=
NM_007297.3:c.5396_5416delinsAGTGCCAGGAGCTGGACACCT	NP_009228.2:p.Gln1799=
NM_007298.3:c.2225_2245delinsAGTGCCAGGAGCTGGACACCT	NP_009229.2:p.Gln742=
NM_007299.3:c.*51_*71delinsAGTGCCAGGAGCTGGACACCT	NP_009230.2:n.*51_*71delinsAGTGCCAGGAGCTG...
NM_007300.3:c.5600_5620delinsAGTGCCAGGAGCTGGACACCT	NP_009231.2:p.Gln1867=
NR_027676.1:n.5673_5693delinsAGTGCCAGGAGCTGGACACCT
NM_007294.4:c.5537_5557delinsAGTGCCAGGAGCTGGACACCT MANE Select	NP_009225.1:p.Gln1846=
NM_007297.4:c.5396_5416delinsAGTGCCAGGAGCTGGACACCT	NP_009228.2:p.Gln1799=
NM_007299.4:c.*51_*71delinsAGTGCCAGGAGCTGGACACCT	NP_009230.2:n.*51_*71delinsAGTGCCAGGAGCTG...
NM_007300.4:c.5600_5620delinsAGTGCCAGGAGCTGGACACCT	NP_009231.2:p.Gln1867=
NR_027676.2:n.5714_5734delinsAGTGCCAGGAGCTGGACACCT