Canonical Allele Identifier: CA290837364

Gene: BRCA1

Linked Data

• dbSNP Id: rs777531326
• gnomAD v2: 17-41234202-CTTG-C
• gnomAD v3: 17-43082185-CTTG-C
• gnomAD v4: 17-43082185-CTTG-C
• MyVariant Identifiers: chr17:g.41234203_41234205del (hg19) ; chr17:g.43082186_43082188del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082190_43082192del , CM000679.2:g.43082190_43082192del	GRCh38
NC_000017.10:g.41234207_41234209del , CM000679.1:g.41234207_41234209del	GRCh37
NC_000017.9:g.38487733_38487735del	NCBI36
NG_005905.2:g.135796_135798del , LRG_292:g.135796_135798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4357+216_4357+218del	ENSP00000417241.2:n.4357+216_4357+218del
ENST00000470026.6:c.4357+216_4357+218del	ENSP00000419274.2:n.4357+216_4357+218del
ENST00000473961.6:c.4231+216_4231+218del	ENSP00000420201.2:n.4231+216_4231+218del
ENST00000476777.6:c.4351+216_4351+218del	ENSP00000417554.2:n.4351+216_4351+218del
ENST00000477152.6:c.4279+216_4279+218del	ENSP00000419988.2:n.4279+216_4279+218del
ENST00000478531.6:c.1045+216_1045+218del	ENSP00000420412.2:n.1045+216_1045+218del
ENST00000489037.2:c.4279+216_4279+218del	ENSP00000420781.2:n.4279+216_4279+218del
ENST00000493919.6:c.907+216_907+218del	ENSP00000418819.2:n.907+216_907+218del
ENST00000494123.6:c.4357+216_4357+218del	ENSP00000419103.2:n.4357+216_4357+218del
ENST00000497488.2:c.3469+216_3469+218del	ENSP00000418986.2:n.3469+216_3469+218del
ENST00000618469.2:c.4357+216_4357+218del	ENSP00000478114.2:n.4357+216_4357+218del
ENST00000634433.2:c.4234+216_4234+218del	ENSP00000489431.2:n.4234+216_4234+218del
ENST00000644379.2:c.4357+216_4357+218del	ENSP00000496570.2:n.4357+216_4357+218del
ENST00000644555.2:c.907+216_907+218del	ENSP00000494614.2:n.907+216_907+218del
ENST00000652672.2:c.4216+216_4216+218del	ENSP00000498906.2:n.4216+216_4216+218del
ENST00000484087.6:c.922+216_922+218del	ENSP00000419481.2:n.922+216_922+218del
ENST00000700182.1:c.967+216_967+218del	ENSP00000514849.1:n.967+216_967+218del
ENST00000357654.9:c.4357+216_4357+218del MANE Select	ENSP00000350283.3:n.4357+216_4357+218del
ENST00000471181.7:c.4357+216_4357+218del	ENSP00000418960.2:n.4357+216_4357+218del
ENST00000644379.1:c.678+216_678+218del
ENST00000352993.7:c.931+216_931+218del	ENSP00000312236.5:n.931+216_931+218del
ENST00000357654.7:c.4357+216_4357+218del	ENSP00000350283.3:n.4357+216_4357+218del
ENST00000461221.5:c.*4140+216_*4140+218del	ENSP00000418548.1:n.*4140+216_*4140+218del
ENST00000461574.1:c.651+216_651+218del
ENST00000468300.5:c.1048+216_1048+218del	ENSP00000417148.1:n.1048+216_1048+218del
ENST00000471181.6:c.4357+216_4357+218del	ENSP00000418960.2:n.4357+216_4357+218del
ENST00000478531.5:c.1045+216_1045+218del	ENSP00000420412.1:n.1045+216_1045+218del
ENST00000484087.5:c.670+216_670+218del	ENSP00000419481.1:n.670+216_670+218del
ENST00000487825.5:c.673+216_673+218del	ENSP00000418212.1:n.673+216_673+218del
ENST00000491747.6:c.1048+216_1048+218del	ENSP00000420705.2:n.1048+216_1048+218del
ENST00000493795.5:c.4216+216_4216+218del	ENSP00000418775.1:n.4216+216_4216+218del
ENST00000493919.5:c.907+216_907+218del	ENSP00000418819.1:n.907+216_907+218del
ENST00000586385.5:c.5-18237_5-18235del	ENSP00000465818.1:n.5-18237_5-18235del
ENST00000591534.5:c.-43-7667_-43-7665del	ENSP00000467329.1:n.-43-7667_-43-7665del
ENST00000591849.5:c.-98-31998_-98-31996del	ENSP00000465347.1:n.-98-31998_-98-31996del
ENST00000621897.1:n.251+216_251+218del
NM_007294.3:c.4357+216_4357+218del , LRG_292t1:c.4357+216_4357+218del	NP_009225.1:n.4357+216_4357+218del
NM_007297.3:c.4216+216_4216+218del	NP_009228.2:n.4216+216_4216+218del
NM_007298.3:c.1048+216_1048+218del	NP_009229.2:n.1048+216_1048+218del
NM_007299.3:c.1048+216_1048+218del	NP_009230.2:n.1048+216_1048+218del
NM_007300.3:c.4357+216_4357+218del	NP_009231.2:n.4357+216_4357+218del
NR_027676.1:n.4493+216_4493+218del
NM_007294.4:c.4357+216_4357+218del MANE Select	NP_009225.1:n.4357+216_4357+218del
NM_007297.4:c.4216+216_4216+218del	NP_009228.2:n.4216+216_4216+218del
NM_007299.4:c.1048+216_1048+218del	NP_009230.2:n.1048+216_1048+218del
NM_007300.4:c.4357+216_4357+218del	NP_009231.2:n.4357+216_4357+218del
NR_027676.2:n.4534+216_4534+218del