Canonical Allele Identifier: CA914177698

Gene: BRCA1

Linked Data

• dbSNP Id: rs1555574381
• gnomAD v2: 17-41197749-CTGGT-C
• gnomAD v3: 17-43045732-CTGGT-C
• gnomAD v4: 17-43045732-CTGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045733_43045736del , CM000679.2:g.43045733_43045736del	GRCh38
NC_000017.10:g.41197750_41197753del , CM000679.1:g.41197750_41197753del	GRCh37
NC_000017.9:g.38451276_38451279del	NCBI36
NG_005905.2:g.172248_172251del , LRG_292:g.172248_172251del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5531_5534del	ENSP00000417241.2:p.Tyr1844CysfsTer9
ENST00000470026.6:c.5534_5537del	ENSP00000419274.2:p.Tyr1845CysfsTer9
ENST00000473961.6:c.5408_5411del	ENSP00000420201.2:p.Tyr1803CysfsTer9
ENST00000476777.6:c.5528_5531del	ENSP00000417554.2:p.Tyr1843CysfsTer9
ENST00000477152.6:c.5456_5459del	ENSP00000419988.2:p.Tyr1819CysfsTer9
ENST00000478531.6:c.2222_2225del	ENSP00000420412.2:p.Tyr741CysfsTer9
ENST00000489037.2:c.5456_5459del	ENSP00000420781.2:p.Tyr1819CysfsTer9
ENST00000493919.6:c.2084_2087del	ENSP00000418819.2:p.Tyr695CysfsTer9
ENST00000494123.6:c.5534_5537del	ENSP00000419103.2:p.Tyr1845CysfsTer9
ENST00000497488.2:c.4646_4649del	ENSP00000418986.2:p.Tyr1549CysfsTer9
ENST00000618469.2:c.5534_5537del	ENSP00000478114.2:p.Tyr1845CysfsTer9
ENST00000634433.2:c.5411_5414del	ENSP00000489431.2:p.Tyr1804CysfsTer9
ENST00000644379.2:c.5600_5603del	ENSP00000496570.2:p.Tyr1867CysfsTer9
ENST00000644555.2:c.2084_2087del	ENSP00000494614.2:p.Tyr695CysfsTer9
ENST00000652672.2:c.5393_5396del	ENSP00000498906.2:p.Tyr1798CysfsTer9
ENST00000484087.6:c.2096_2099del	ENSP00000419481.2:p.Tyr699CysfsTer9
ENST00000700081.1:n.1417_1420del
ENST00000700082.1:n.898_901del
ENST00000357654.9:c.5534_5537del MANE Select	ENSP00000350283.3:p.Tyr1845CysfsTer9
ENST00000471181.7:c.5597_5600del	ENSP00000418960.2:p.Tyr1866CysfsTer9
ENST00000644379.1:c.1921_1924del
ENST00000352993.7:c.2108_2111del	ENSP00000312236.5:p.Tyr703CysfsTer9
ENST00000357654.7:c.5534_5537del	ENSP00000350283.3:p.Tyr1845CysfsTer9
ENST00000461221.5:c.*5317_*5320del	ENSP00000418548.1:n.*5317_*5320del
ENST00000468300.5:c.*48_*51del	ENSP00000417148.1:n.*48_*51del
ENST00000471181.6:c.5597_5600del	ENSP00000418960.2:p.Tyr1866CysfsTer9
ENST00000491747.6:c.2222_2225del	ENSP00000420705.2:p.Tyr741CysfsTer9
ENST00000493795.5:c.5393_5396del	ENSP00000418775.1:p.Tyr1798CysfsTer9
ENST00000586385.5:c.464_467del	ENSP00000465818.1:p.Tyr155CysfsTer9
ENST00000591534.5:c.1007_1010del	ENSP00000467329.1:p.Tyr336CysfsTer9
ENST00000591849.5:c.233_236del	ENSP00000465347.1:p.Tyr78CysfsTer9
NM_007294.3:c.5534_5537del , LRG_292t1:c.5534_5537del	NP_009225.1:p.Tyr1845CysfsTer9
NM_007297.3:c.5393_5396del	NP_009228.2:p.Tyr1798CysfsTer9
NM_007298.3:c.2222_2225del	NP_009229.2:p.Tyr741CysfsTer9
NM_007299.3:c.*48_*51del	NP_009230.2:n.*48_*51del
NM_007300.3:c.5597_5600del	NP_009231.2:p.Tyr1866CysfsTer9
NR_027676.1:n.5670_5673del
NM_007294.4:c.5534_5537del MANE Select	NP_009225.1:p.Tyr1845CysfsTer9
NM_007297.4:c.5393_5396del	NP_009228.2:p.Tyr1798CysfsTer9
NM_007299.4:c.*48_*51del	NP_009230.2:n.*48_*51del
NM_007300.4:c.5597_5600del	NP_009231.2:p.Tyr1866CysfsTer9
NR_027676.2:n.5711_5714del