Canonical Allele Identifier: CA772177604

Gene: BRCA1

Linked Data

• dbSNP Id: rs1555579923
• gnomAD v3: 17-43067903-A-AAAG
• gnomAD v4: 17-43067903-A-AAAG
• MyVariant Identifiers: chr17:g.41219920_41219921insAAG (hg19) ; chr17:g.43067903_43067904insAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067905_43067906insGAA , CM000679.2:g.43067905_43067906insGAA	GRCh38
NC_000017.10:g.41219922_41219923insGAA , CM000679.1:g.41219922_41219923insGAA	GRCh37
NC_000017.9:g.38473448_38473449insGAA	NCBI36
NG_005905.2:g.150080_150081insCTT , LRG_292:g.150080_150081insCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4984-209_4984-208insCTT	ENSP00000417241.2:n.4984-209_4984-208insCTT
ENST00000470026.6:c.4987-209_4987-208insCTT	ENSP00000419274.2:n.4987-209_4987-208insCTT
ENST00000473961.6:c.4861-209_4861-208insCTT	ENSP00000420201.2:n.4861-209_4861-208insCTT
ENST00000476777.6:c.4981-209_4981-208insCTT	ENSP00000417554.2:n.4981-209_4981-208insCTT
ENST00000477152.6:c.4909-209_4909-208insCTT	ENSP00000419988.2:n.4909-209_4909-208insCTT
ENST00000478531.6:c.1675-209_1675-208insCTT	ENSP00000420412.2:n.1675-209_1675-208insCTT
ENST00000489037.2:c.4909-209_4909-208insCTT	ENSP00000420781.2:n.4909-209_4909-208insCTT
ENST00000493919.6:c.1537-209_1537-208insCTT	ENSP00000418819.2:n.1537-209_1537-208insCTT
ENST00000494123.6:c.4987-209_4987-208insCTT	ENSP00000419103.2:n.4987-209_4987-208insCTT
ENST00000497488.2:c.4099-209_4099-208insCTT	ENSP00000418986.2:n.4099-209_4099-208insCTT
ENST00000618469.2:c.4987-209_4987-208insCTT	ENSP00000478114.2:n.4987-209_4987-208insCTT
ENST00000634433.2:c.4864-209_4864-208insCTT	ENSP00000489431.2:n.4864-209_4864-208insCTT
ENST00000644379.2:c.5053-209_5053-208insCTT	ENSP00000496570.2:n.5053-209_5053-208insCTT
ENST00000644555.2:c.1537-209_1537-208insCTT	ENSP00000494614.2:n.1537-209_1537-208insCTT
ENST00000652672.2:c.4846-209_4846-208insCTT	ENSP00000498906.2:n.4846-209_4846-208insCTT
ENST00000484087.6:c.1549-209_1549-208insCTT	ENSP00000419481.2:n.1549-209_1549-208insCTT
ENST00000357654.9:c.4987-209_4987-208insCTT MANE Select	ENSP00000350283.3:n.4987-209_4987-208insCTT
ENST00000471181.7:c.5050-209_5050-208insCTT	ENSP00000418960.2:n.5050-209_5050-208insCTT
ENST00000644379.1:c.1374-209_1374-208insCTT
ENST00000352993.7:c.1561-209_1561-208insCTT	ENSP00000312236.5:n.1561-209_1561-208insCTT
ENST00000357654.7:c.4987-209_4987-208insCTT	ENSP00000350283.3:n.4987-209_4987-208insCTT
ENST00000461221.5:c.*4770-209_*4770-208insCTT	ENSP00000418548.1:n.*4770-209_*4770-208insCTT
ENST00000468300.5:c.1675-209_1675-208insCTT	ENSP00000417148.1:n.1675-209_1675-208insCTT
ENST00000471181.6:c.5050-209_5050-208insCTT	ENSP00000418960.2:n.5050-209_5050-208insCTT
ENST00000472490.1:n.140-209_140-208insCTT
ENST00000478531.5:c.1675-209_1675-208insCTT	ENSP00000420412.1:n.1675-209_1675-208insCTT
ENST00000484087.5:c.1300-209_1300-208insCTT	ENSP00000419481.1:n.1300-209_1300-208insCTT
ENST00000491747.6:c.1675-209_1675-208insCTT	ENSP00000420705.2:n.1675-209_1675-208insCTT
ENST00000493795.5:c.4846-209_4846-208insCTT	ENSP00000418775.1:n.4846-209_4846-208insCTT
ENST00000493919.5:c.1537-209_1537-208insCTT	ENSP00000418819.1:n.1537-209_1537-208insCTT
ENST00000586385.5:c.5-3953_5-3952insCTT	ENSP00000465818.1:n.5-3953_5-3952insCTT
ENST00000591534.5:c.460-209_460-208insCTT	ENSP00000467329.1:n.460-209_460-208insCTT
ENST00000591849.5:c.-98-17714_-98-17713insCTT	ENSP00000465347.1:n.-98-17714_-98-17713insCTT
NM_007294.3:c.4987-209_4987-208insCTT , LRG_292t1:c.4987-209_4987-208insCTT	NP_009225.1:n.4987-209_4987-208insCTT
NM_007297.3:c.4846-209_4846-208insCTT	NP_009228.2:n.4846-209_4846-208insCTT
NM_007298.3:c.1675-209_1675-208insCTT	NP_009229.2:n.1675-209_1675-208insCTT
NM_007299.3:c.1675-209_1675-208insCTT	NP_009230.2:n.1675-209_1675-208insCTT
NM_007300.3:c.5050-209_5050-208insCTT	NP_009231.2:n.5050-209_5050-208insCTT
NR_027676.1:n.5123-209_5123-208insCTT
NM_007294.4:c.4987-209_4987-208insCTT MANE Select	NP_009225.1:n.4987-209_4987-208insCTT
NM_007297.4:c.4846-209_4846-208insCTT	NP_009228.2:n.4846-209_4846-208insCTT
NM_007299.4:c.1675-209_1675-208insCTT	NP_009230.2:n.1675-209_1675-208insCTT
NM_007300.4:c.5050-209_5050-208insCTT	NP_009231.2:n.5050-209_5050-208insCTT
NR_027676.2:n.5164-209_5164-208insCTT