Canonical Allele Identifier: CA2809539438

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067802_43067803insCT , CM000679.2:g.43067802_43067803insCT	GRCh38
NC_000017.10:g.41219819_41219820insCT , CM000679.1:g.41219819_41219820insCT	GRCh37
NC_000017.9:g.38473345_38473346insCT	NCBI36
NG_005905.2:g.150181_150182insAG , LRG_292:g.150181_150182insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4984-108_4984-107insAG	ENSP00000417241.2:n.4984-108_4984-107insAG
ENST00000470026.6:c.4987-108_4987-107insAG	ENSP00000419274.2:n.4987-108_4987-107insAG
ENST00000473961.6:c.4861-108_4861-107insAG	ENSP00000420201.2:n.4861-108_4861-107insAG
ENST00000476777.6:c.4981-108_4981-107insAG	ENSP00000417554.2:n.4981-108_4981-107insAG
ENST00000477152.6:c.4909-108_4909-107insAG	ENSP00000419988.2:n.4909-108_4909-107insAG
ENST00000478531.6:c.1675-108_1675-107insAG	ENSP00000420412.2:n.1675-108_1675-107insAG
ENST00000489037.2:c.4909-108_4909-107insAG	ENSP00000420781.2:n.4909-108_4909-107insAG
ENST00000493919.6:c.1537-108_1537-107insAG	ENSP00000418819.2:n.1537-108_1537-107insAG
ENST00000494123.6:c.4987-108_4987-107insAG	ENSP00000419103.2:n.4987-108_4987-107insAG
ENST00000497488.2:c.4099-108_4099-107insAG	ENSP00000418986.2:n.4099-108_4099-107insAG
ENST00000618469.2:c.4987-108_4987-107insAG	ENSP00000478114.2:n.4987-108_4987-107insAG
ENST00000634433.2:c.4864-108_4864-107insAG	ENSP00000489431.2:n.4864-108_4864-107insAG
ENST00000644379.2:c.5053-108_5053-107insAG	ENSP00000496570.2:n.5053-108_5053-107insAG
ENST00000644555.2:c.1537-108_1537-107insAG	ENSP00000494614.2:n.1537-108_1537-107insAG
ENST00000652672.2:c.4846-108_4846-107insAG	ENSP00000498906.2:n.4846-108_4846-107insAG
ENST00000484087.6:c.1549-108_1549-107insAG	ENSP00000419481.2:n.1549-108_1549-107insAG
ENST00000357654.9:c.4987-108_4987-107insAG MANE Select	ENSP00000350283.3:n.4987-108_4987-107insAG
ENST00000471181.7:c.5050-108_5050-107insAG	ENSP00000418960.2:n.5050-108_5050-107insAG
ENST00000644379.1:c.1374-108_1374-107insAG
ENST00000352993.7:c.1561-108_1561-107insAG	ENSP00000312236.5:n.1561-108_1561-107insAG
ENST00000357654.7:c.4987-108_4987-107insAG	ENSP00000350283.3:n.4987-108_4987-107insAG
ENST00000461221.5:c.*4770-108_*4770-107insAG	ENSP00000418548.1:n.*4770-108_*4770-107insAG
ENST00000468300.5:c.1675-108_1675-107insAG	ENSP00000417148.1:n.1675-108_1675-107insAG
ENST00000471181.6:c.5050-108_5050-107insAG	ENSP00000418960.2:n.5050-108_5050-107insAG
ENST00000472490.1:n.140-108_140-107insAG
ENST00000478531.5:c.1675-108_1675-107insAG	ENSP00000420412.1:n.1675-108_1675-107insAG
ENST00000484087.5:c.1300-108_1300-107insAG	ENSP00000419481.1:n.1300-108_1300-107insAG
ENST00000491747.6:c.1675-108_1675-107insAG	ENSP00000420705.2:n.1675-108_1675-107insAG
ENST00000493795.5:c.4846-108_4846-107insAG	ENSP00000418775.1:n.4846-108_4846-107insAG
ENST00000493919.5:c.1537-108_1537-107insAG	ENSP00000418819.1:n.1537-108_1537-107insAG
ENST00000586385.5:c.5-3852_5-3851insAG	ENSP00000465818.1:n.5-3852_5-3851insAG
ENST00000591534.5:c.460-108_460-107insAG	ENSP00000467329.1:n.460-108_460-107insAG
ENST00000591849.5:c.-98-17613_-98-17612insAG	ENSP00000465347.1:n.-98-17613_-98-17612insAG
NM_007294.3:c.4987-108_4987-107insAG , LRG_292t1:c.4987-108_4987-107insAG	NP_009225.1:n.4987-108_4987-107insAG
NM_007297.3:c.4846-108_4846-107insAG	NP_009228.2:n.4846-108_4846-107insAG
NM_007298.3:c.1675-108_1675-107insAG	NP_009229.2:n.1675-108_1675-107insAG
NM_007299.3:c.1675-108_1675-107insAG	NP_009230.2:n.1675-108_1675-107insAG
NM_007300.3:c.5050-108_5050-107insAG	NP_009231.2:n.5050-108_5050-107insAG
NR_027676.1:n.5123-108_5123-107insAG
NM_007294.4:c.4987-108_4987-107insAG MANE Select	NP_009225.1:n.4987-108_4987-107insAG
NM_007297.4:c.4846-108_4846-107insAG	NP_009228.2:n.4846-108_4846-107insAG
NM_007299.4:c.1675-108_1675-107insAG	NP_009230.2:n.1675-108_1675-107insAG
NM_007300.4:c.5050-108_5050-107insAG	NP_009231.2:n.5050-108_5050-107insAG
NR_027676.2:n.5164-108_5164-107insAG