Canonical Allele Identifier: CA2638062641

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43091703-CAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091705_43091707del , CM000679.2:g.43091705_43091707del	GRCh38
NC_000017.10:g.41243722_41243724del , CM000679.1:g.41243722_41243724del	GRCh37
NC_000017.9:g.38497248_38497250del	NCBI36
NG_005905.2:g.126278_126280del , LRG_292:g.126278_126280del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3889_3891del
ENST00000461574.2:c.3825_3827del	ENSP00000417241.2:p.Ile1275_Leu1276delins...
ENST00000470026.6:c.3825_3827del	ENSP00000419274.2:p.Ile1275_Leu1276delins...
ENST00000473961.6:c.3699_3701del	ENSP00000420201.2:p.Ile1233_Leu1234delins...
ENST00000476777.6:c.3822_3824del	ENSP00000417554.2:p.Ile1274_Leu1275delins...
ENST00000477152.6:c.3747_3749del	ENSP00000419988.2:p.Ile1249_Leu1250delins...
ENST00000478531.6:c.785-674_785-672del	ENSP00000420412.2:n.785-674_785-672del
ENST00000489037.2:c.3747_3749del	ENSP00000420781.2:p.Ile1249_Leu1250delins...
ENST00000493919.6:c.647-674_647-672del	ENSP00000418819.2:n.647-674_647-672del
ENST00000494123.6:c.3825_3827del	ENSP00000419103.2:p.Ile1275_Leu1276delins...
ENST00000497488.2:c.2937_2939del	ENSP00000418986.2:p.Ile979_Leu980delinsMe...
ENST00000618469.2:c.3825_3827del	ENSP00000478114.2:p.Ile1275_Leu1276delins...
ENST00000634433.2:c.3702_3704del	ENSP00000489431.2:p.Ile1234_Leu1235delins...
ENST00000644379.2:c.3825_3827del	ENSP00000496570.2:p.Ile1275_Leu1276delins...
ENST00000644555.2:c.647-674_647-672del	ENSP00000494614.2:n.647-674_647-672del
ENST00000652672.2:c.3684_3686del	ENSP00000498906.2:p.Ile1228_Leu1229delins...
ENST00000484087.6:c.665-674_665-672del	ENSP00000419481.2:n.665-674_665-672del
ENST00000700182.1:c.707-674_707-672del	ENSP00000514849.1:n.707-674_707-672del
ENST00000357654.9:c.3825_3827del MANE Select	ENSP00000350283.3:p.Ile1275_Leu1276delins...
ENST00000471181.7:c.3825_3827del	ENSP00000418960.2:p.Ile1275_Leu1276delins...
ENST00000644379.1:c.146_148del
ENST00000352993.7:c.671-674_671-672del	ENSP00000312236.5:n.671-674_671-672del
ENST00000354071.7:c.3825_3827del	ENSP00000326002.7:p.Ile1275_Leu1276delins...
ENST00000357654.7:c.3825_3827del	ENSP00000350283.3:p.Ile1275_Leu1276delins...
ENST00000461221.5:c.*3608_*3610del	ENSP00000418548.1:n.*3608_*3610del
ENST00000461574.1:c.119_121del
ENST00000468300.5:c.788-674_788-672del	ENSP00000417148.1:n.788-674_788-672del
ENST00000471181.6:c.3825_3827del	ENSP00000418960.2:p.Ile1275_Leu1276delins...
ENST00000478531.5:c.785-674_785-672del	ENSP00000420412.1:n.785-674_785-672del
ENST00000484087.5:c.410-674_410-672del	ENSP00000419481.1:n.410-674_410-672del
ENST00000487825.5:c.413-674_413-672del	ENSP00000418212.1:n.413-674_413-672del
ENST00000491747.6:c.788-674_788-672del	ENSP00000420705.2:n.788-674_788-672del
ENST00000493795.5:c.3684_3686del	ENSP00000418775.1:p.Ile1228_Leu1229delins...
ENST00000493919.5:c.647-674_647-672del	ENSP00000418819.1:n.647-674_647-672del
ENST00000586385.5:c.5-27755_5-27753del	ENSP00000465818.1:n.5-27755_5-27753del
ENST00000591534.5:c.-43-17185_-43-17183del	ENSP00000467329.1:n.-43-17185_-43-17183de...
ENST00000591849.5:c.-99+33565_-99+33567del	ENSP00000465347.1:n.-99+33565_-99+33567de...
NM_007294.3:c.3825_3827del , LRG_292t1:c.3825_3827del	NP_009225.1:p.Ile1275_Leu1276delinsMet
NM_007297.3:c.3684_3686del	NP_009228.2:p.Ile1228_Leu1229delinsMet
NM_007298.3:c.788-674_788-672del	NP_009229.2:n.788-674_788-672del
NM_007299.3:c.788-674_788-672del	NP_009230.2:n.788-674_788-672del
NM_007300.3:c.3825_3827del	NP_009231.2:p.Ile1275_Leu1276delinsMet
NR_027676.1:n.3961_3963del
NM_007294.4:c.3825_3827del MANE Select	NP_009225.1:p.Ile1275_Leu1276delinsMet
NM_007297.4:c.3684_3686del	NP_009228.2:p.Ile1228_Leu1229delinsMet
NM_007299.4:c.788-674_788-672del	NP_009230.2:n.788-674_788-672del
NM_007300.4:c.3825_3827del	NP_009231.2:p.Ile1275_Leu1276delinsMet
NR_027676.2:n.4002_4004del