Canonical Allele Identifier: CA626081839

Gene: BRCA1

Linked Data

• dbSNP Id: rs1250667627
• gnomAD v2: 17-41219955-A-AGTCTCTG
• gnomAD v3: 17-43067938-A-AGTCTCTG
• gnomAD v4: 17-43067938-A-AGTCTCTG
• MyVariant Identifiers: chr17:g.41219955_41219956insGTCTCTG (hg19) ; chr17:g.43067938_43067939insGTCTCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067939_43067945dup , CM000679.2:g.43067939_43067945dup	GRCh38
NC_000017.10:g.41219956_41219962dup , CM000679.1:g.41219956_41219962dup	GRCh37
NC_000017.9:g.38473482_38473488dup	NCBI36
NG_005905.2:g.150039_150045dup , LRG_292:g.150039_150045dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4984-250_4984-244dup	ENSP00000417241.2:n.4984-250_4984-244dup
ENST00000470026.6:c.4987-250_4987-244dup	ENSP00000419274.2:n.4987-250_4987-244dup
ENST00000473961.6:c.4861-250_4861-244dup	ENSP00000420201.2:n.4861-250_4861-244dup
ENST00000476777.6:c.4981-250_4981-244dup	ENSP00000417554.2:n.4981-250_4981-244dup
ENST00000477152.6:c.4909-250_4909-244dup	ENSP00000419988.2:n.4909-250_4909-244dup
ENST00000478531.6:c.1675-250_1675-244dup	ENSP00000420412.2:n.1675-250_1675-244dup
ENST00000489037.2:c.4909-250_4909-244dup	ENSP00000420781.2:n.4909-250_4909-244dup
ENST00000493919.6:c.1537-250_1537-244dup	ENSP00000418819.2:n.1537-250_1537-244dup
ENST00000494123.6:c.4987-250_4987-244dup	ENSP00000419103.2:n.4987-250_4987-244dup
ENST00000497488.2:c.4099-250_4099-244dup	ENSP00000418986.2:n.4099-250_4099-244dup
ENST00000618469.2:c.4987-250_4987-244dup	ENSP00000478114.2:n.4987-250_4987-244dup
ENST00000634433.2:c.4864-250_4864-244dup	ENSP00000489431.2:n.4864-250_4864-244dup
ENST00000644379.2:c.5053-250_5053-244dup	ENSP00000496570.2:n.5053-250_5053-244dup
ENST00000644555.2:c.1537-250_1537-244dup	ENSP00000494614.2:n.1537-250_1537-244dup
ENST00000652672.2:c.4846-250_4846-244dup	ENSP00000498906.2:n.4846-250_4846-244dup
ENST00000484087.6:c.1549-250_1549-244dup	ENSP00000419481.2:n.1549-250_1549-244dup
ENST00000357654.9:c.4987-250_4987-244dup MANE Select	ENSP00000350283.3:n.4987-250_4987-244dup
ENST00000471181.7:c.5050-250_5050-244dup	ENSP00000418960.2:n.5050-250_5050-244dup
ENST00000644379.1:c.1374-250_1374-244dup
ENST00000352993.7:c.1561-250_1561-244dup	ENSP00000312236.5:n.1561-250_1561-244dup
ENST00000357654.7:c.4987-250_4987-244dup	ENSP00000350283.3:n.4987-250_4987-244dup
ENST00000461221.5:c.*4770-250_*4770-244dup	ENSP00000418548.1:n.*4770-250_*4770-244dup
ENST00000468300.5:c.1675-250_1675-244dup	ENSP00000417148.1:n.1675-250_1675-244dup
ENST00000471181.6:c.5050-250_5050-244dup	ENSP00000418960.2:n.5050-250_5050-244dup
ENST00000472490.1:n.140-250_140-244dup
ENST00000478531.5:c.1675-250_1675-244dup	ENSP00000420412.1:n.1675-250_1675-244dup
ENST00000484087.5:c.1300-250_1300-244dup	ENSP00000419481.1:n.1300-250_1300-244dup
ENST00000491747.6:c.1675-250_1675-244dup	ENSP00000420705.2:n.1675-250_1675-244dup
ENST00000493795.5:c.4846-250_4846-244dup	ENSP00000418775.1:n.4846-250_4846-244dup
ENST00000493919.5:c.1537-250_1537-244dup	ENSP00000418819.1:n.1537-250_1537-244dup
ENST00000586385.5:c.5-3994_5-3988dup	ENSP00000465818.1:n.5-3994_5-3988dup
ENST00000591534.5:c.460-250_460-244dup	ENSP00000467329.1:n.460-250_460-244dup
ENST00000591849.5:c.-98-17755_-98-17749dup	ENSP00000465347.1:n.-98-17755_-98-17749dup
NM_007294.3:c.4987-250_4987-244dup , LRG_292t1:c.4987-250_4987-244dup	NP_009225.1:n.4987-250_4987-244dup
NM_007297.3:c.4846-250_4846-244dup	NP_009228.2:n.4846-250_4846-244dup
NM_007298.3:c.1675-250_1675-244dup	NP_009229.2:n.1675-250_1675-244dup
NM_007299.3:c.1675-250_1675-244dup	NP_009230.2:n.1675-250_1675-244dup
NM_007300.3:c.5050-250_5050-244dup	NP_009231.2:n.5050-250_5050-244dup
NR_027676.1:n.5123-250_5123-244dup
NM_007294.4:c.4987-250_4987-244dup MANE Select	NP_009225.1:n.4987-250_4987-244dup
NM_007297.4:c.4846-250_4846-244dup	NP_009228.2:n.4846-250_4846-244dup
NM_007299.4:c.1675-250_1675-244dup	NP_009230.2:n.1675-250_1675-244dup
NM_007300.4:c.5050-250_5050-244dup	NP_009231.2:n.5050-250_5050-244dup
NR_027676.2:n.5164-250_5164-244dup