Canonical Allele Identifier: CA626075624

Gene: BRCA1

Linked Data

• dbSNP Id: rs1456928154
• gnomAD v2: 17-41242866-AGAT-A
• gnomAD v3: 17-43090849-AGAT-A
• gnomAD v4: 17-43090849-AGAT-A
• MyVariant Identifiers: chr17:g.41242867_41242869del (hg19) ; chr17:g.43090850_43090852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090854_43090856del , CM000679.2:g.43090854_43090856del	GRCh38
NC_000017.10:g.41242871_41242873del , CM000679.1:g.41242871_41242873del	GRCh37
NC_000017.9:g.38496397_38496399del	NCBI36
NG_005905.2:g.127132_127134del , LRG_292:g.127132_127134del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4185+92_4185+94del	ENSP00000417241.2:n.4185+92_4185+94del
ENST00000470026.6:c.4185+92_4185+94del	ENSP00000419274.2:n.4185+92_4185+94del
ENST00000473961.6:c.4059+92_4059+94del	ENSP00000420201.2:n.4059+92_4059+94del
ENST00000476777.6:c.4182+92_4182+94del	ENSP00000417554.2:n.4182+92_4182+94del
ENST00000477152.6:c.4107+92_4107+94del	ENSP00000419988.2:n.4107+92_4107+94del
ENST00000478531.6:c.873+92_873+94del	ENSP00000420412.2:n.873+92_873+94del
ENST00000489037.2:c.4107+92_4107+94del	ENSP00000420781.2:n.4107+92_4107+94del
ENST00000493919.6:c.735+92_735+94del	ENSP00000418819.2:n.735+92_735+94del
ENST00000494123.6:c.4185+92_4185+94del	ENSP00000419103.2:n.4185+92_4185+94del
ENST00000497488.2:c.3297+92_3297+94del	ENSP00000418986.2:n.3297+92_3297+94del
ENST00000618469.2:c.4185+92_4185+94del	ENSP00000478114.2:n.4185+92_4185+94del
ENST00000634433.2:c.4062+92_4062+94del	ENSP00000489431.2:n.4062+92_4062+94del
ENST00000644379.2:c.4185+92_4185+94del	ENSP00000496570.2:n.4185+92_4185+94del
ENST00000644555.2:c.735+92_735+94del	ENSP00000494614.2:n.735+92_735+94del
ENST00000652672.2:c.4044+92_4044+94del	ENSP00000498906.2:n.4044+92_4044+94del
ENST00000484087.6:c.753+92_753+94del	ENSP00000419481.2:n.753+92_753+94del
ENST00000700182.1:c.795+92_795+94del	ENSP00000514849.1:n.795+92_795+94del
ENST00000357654.9:c.4185+92_4185+94del MANE Select	ENSP00000350283.3:n.4185+92_4185+94del
ENST00000471181.7:c.4185+92_4185+94del	ENSP00000418960.2:n.4185+92_4185+94del
ENST00000644379.1:c.506+92_506+94del
ENST00000352993.7:c.759+92_759+94del	ENSP00000312236.5:n.759+92_759+94del
ENST00000357654.7:c.4185+92_4185+94del	ENSP00000350283.3:n.4185+92_4185+94del
ENST00000461221.5:c.*3968+92_*3968+94del	ENSP00000418548.1:n.*3968+92_*3968+94del
ENST00000461574.1:c.479+92_479+94del
ENST00000468300.5:c.876+92_876+94del	ENSP00000417148.1:n.876+92_876+94del
ENST00000471181.6:c.4185+92_4185+94del	ENSP00000418960.2:n.4185+92_4185+94del
ENST00000478531.5:c.873+92_873+94del	ENSP00000420412.1:n.873+92_873+94del
ENST00000484087.5:c.498+92_498+94del	ENSP00000419481.1:n.498+92_498+94del
ENST00000487825.5:c.501+92_501+94del	ENSP00000418212.1:n.501+92_501+94del
ENST00000491747.6:c.876+92_876+94del	ENSP00000420705.2:n.876+92_876+94del
ENST00000493795.5:c.4044+92_4044+94del	ENSP00000418775.1:n.4044+92_4044+94del
ENST00000493919.5:c.735+92_735+94del	ENSP00000418819.1:n.735+92_735+94del
ENST00000586385.5:c.5-26901_5-26899del	ENSP00000465818.1:n.5-26901_5-26899del
ENST00000591534.5:c.-43-16331_-43-16329del	ENSP00000467329.1:n.-43-16331_-43-16329del
ENST00000591849.5:c.-99+34419_-99+34421del	ENSP00000465347.1:n.-99+34419_-99+34421del
NM_007294.3:c.4185+92_4185+94del , LRG_292t1:c.4185+92_4185+94del	NP_009225.1:n.4185+92_4185+94del
NM_007297.3:c.4044+92_4044+94del	NP_009228.2:n.4044+92_4044+94del
NM_007298.3:c.876+92_876+94del	NP_009229.2:n.876+92_876+94del
NM_007299.3:c.876+92_876+94del	NP_009230.2:n.876+92_876+94del
NM_007300.3:c.4185+92_4185+94del	NP_009231.2:n.4185+92_4185+94del
NR_027676.1:n.4321+92_4321+94del
NM_007294.4:c.4185+92_4185+94del MANE Select	NP_009225.1:n.4185+92_4185+94del
NM_007297.4:c.4044+92_4044+94del	NP_009228.2:n.4044+92_4044+94del
NM_007299.4:c.876+92_876+94del	NP_009230.2:n.876+92_876+94del
NM_007300.4:c.4185+92_4185+94del	NP_009231.2:n.4185+92_4185+94del
NR_027676.2:n.4362+92_4362+94del