Canonical Allele Identifier: CA002023

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54768
• ClinVar RCV Id: RCV000048068 ; RCV000077537 ; RCV000213895 ; RCV000255873
• dbSNP Id: rs80357647
• MyVariant Identifiers: chr17:g.41244454_41244464del (hg19) ; chr17:g.43092437_43092447del (hg38)
• PubMed: PMID:11334729 ; PMID:11720839 ; PMID:16267036 ; PMID:17574839 ; PMID:28637432

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092437_43092447del , CM000679.2:g.43092437_43092447del	GRCh38
NC_000017.10:g.41244454_41244464del , CM000679.1:g.41244454_41244464del	GRCh37
NC_000017.9:g.38497980_38497990del	NCBI36
NG_005905.2:g.125537_125547del , LRG_292:g.125537_125547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3148_3158del
ENST00000461574.2:c.3084_3094del	ENSP00000417241.2:p.Asn1029ArgfsTer5
ENST00000470026.6:c.3084_3094del	ENSP00000419274.2:p.Asn1029ArgfsTer5
ENST00000473961.6:c.2958_2968del	ENSP00000420201.2:p.Asn987ArgfsTer5
ENST00000476777.6:c.3081_3091del	ENSP00000417554.2:p.Asn1028ArgfsTer5
ENST00000477152.6:c.3006_3016del	ENSP00000419988.2:p.Asn1003ArgfsTer5
ENST00000478531.6:c.785-1415_785-1405del	ENSP00000420412.2:n.785-1415_785-1405del
ENST00000489037.2:c.3006_3016del	ENSP00000420781.2:p.Asn1003ArgfsTer5
ENST00000493919.6:c.647-1415_647-1405del	ENSP00000418819.2:n.647-1415_647-1405del
ENST00000494123.6:c.3084_3094del	ENSP00000419103.2:p.Asn1029ArgfsTer5
ENST00000497488.2:c.2196_2206del	ENSP00000418986.2:p.Asn733ArgfsTer5
ENST00000618469.2:c.3084_3094del	ENSP00000478114.2:p.Asn1029ArgfsTer5
ENST00000634433.2:c.2961_2971del	ENSP00000489431.2:p.Asn988ArgfsTer5
ENST00000644379.2:c.3084_3094del	ENSP00000496570.2:p.Asn1029ArgfsTer5
ENST00000644555.2:c.647-1415_647-1405del	ENSP00000494614.2:n.647-1415_647-1405del
ENST00000652672.2:c.2943_2953del	ENSP00000498906.2:p.Asn982ArgfsTer5
ENST00000484087.6:c.665-1415_665-1405del	ENSP00000419481.2:n.665-1415_665-1405del
ENST00000700182.1:c.707-1415_707-1405del	ENSP00000514849.1:n.707-1415_707-1405del
ENST00000357654.9:c.3084_3094del MANE Select	ENSP00000350283.3:p.Asn1029ArgfsTer5
ENST00000471181.7:c.3084_3094del	ENSP00000418960.2:p.Asn1029ArgfsTer5
ENST00000352993.7:c.671-1415_671-1405del	ENSP00000312236.5:n.671-1415_671-1405del
ENST00000354071.7:c.3084_3094del	ENSP00000326002.7:p.Asn1029ArgfsTer5
ENST00000357654.7:c.3084_3094del	ENSP00000350283.3:p.Asn1029ArgfsTer5
ENST00000461221.5:c.*2867_*2877del	ENSP00000418548.1:n.*2867_*2877del
ENST00000468300.5:c.788-1415_788-1405del	ENSP00000417148.1:n.788-1415_788-1405del
ENST00000471181.6:c.3084_3094del	ENSP00000418960.2:p.Asn1029ArgfsTer5
ENST00000478531.5:c.785-1415_785-1405del	ENSP00000420412.1:n.785-1415_785-1405del
ENST00000484087.5:c.410-1415_410-1405del	ENSP00000419481.1:n.410-1415_410-1405del
ENST00000487825.5:c.413-1415_413-1405del	ENSP00000418212.1:n.413-1415_413-1405del
ENST00000491747.6:c.788-1415_788-1405del	ENSP00000420705.2:n.788-1415_788-1405del
ENST00000493795.5:c.2943_2953del	ENSP00000418775.1:p.Asn982ArgfsTer5
ENST00000493919.5:c.647-1415_647-1405del	ENSP00000418819.1:n.647-1415_647-1405del
ENST00000586385.5:c.5-28496_5-28486del	ENSP00000465818.1:n.5-28496_5-28486del
ENST00000591534.5:c.-43-17926_-43-17916del	ENSP00000467329.1:n.-43-17926_-43-17916del
ENST00000591849.5:c.-99+32824_-99+32834del	ENSP00000465347.1:n.-99+32824_-99+32834del
NM_007294.3:c.3084_3094del , LRG_292t1:c.3084_3094del	NP_009225.1:p.Asn1029ArgfsTer5
NM_007297.3:c.2943_2953del	NP_009228.2:p.Asn982ArgfsTer5
NM_007298.3:c.788-1415_788-1405del	NP_009229.2:n.788-1415_788-1405del
NM_007299.3:c.788-1415_788-1405del	NP_009230.2:n.788-1415_788-1405del
NM_007300.3:c.3084_3094del	NP_009231.2:p.Asn1029ArgfsTer5
NR_027676.1:n.3220_3230del
NM_007294.4:c.3084_3094del MANE Select	NP_009225.1:p.Asn1029ArgfsTer5
NM_007297.4:c.2943_2953del	NP_009228.2:p.Asn982ArgfsTer5
NM_007299.4:c.788-1415_788-1405del	NP_009230.2:n.788-1415_788-1405del
NM_007300.4:c.3084_3094del	NP_009231.2:p.Asn1029ArgfsTer5
NR_027676.2:n.3261_3271del