Canonical Allele Identifier: CA645373197
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431202
ClinVar RCV Id: RCV000496887 RCV000660960
dbSNP Id: rs1135401838
MyVariant Identifiers: chr17:g.41246664_41246668del (hg19) chr17:g.43094647_43094651del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094647_43094651del , CM000679.2:g.43094647_43094651del GRCh38
NC_000017.10:g.41246664_41246668del , CM000679.1:g.41246664_41246668del GRCh37
NC_000017.9:g.38500190_38500194del NCBI36
NG_005905.2:g.123333_123337del , LRG_292:g.123333_123337del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.944_948del
ENST00000461574.2:c.880_884del ENSP00000417241.2:p.Lys294GlnfsTer8
ENST00000470026.6:c.880_884del ENSP00000419274.2:p.Lys294GlnfsTer8
ENST00000473961.6:c.754_758del ENSP00000420201.2:p.Lys252GlnfsTer8
ENST00000476777.6:c.877_881del ENSP00000417554.2:p.Lys293GlnfsTer8
ENST00000477152.6:c.802_806del ENSP00000419988.2:p.Lys268GlnfsTer8
ENST00000478531.6:c.784+93_784+97del ENSP00000420412.2:n.784+93_784+97del
ENST00000489037.2:c.802_806del ENSP00000420781.2:p.Lys268GlnfsTer8
ENST00000493919.6:c.646+93_646+97del ENSP00000418819.2:n.646+93_646+97del
ENST00000494123.6:c.880_884del ENSP00000419103.2:p.Lys294GlnfsTer8
ENST00000497488.2:c.-9_-5del ENSP00000418986.2:n.-9_-5del
ENST00000618469.2:c.880_884del ENSP00000478114.2:p.Lys294GlnfsTer8
ENST00000634433.2:c.757_761del ENSP00000489431.2:p.Lys253GlnfsTer8
ENST00000644379.2:c.880_884del ENSP00000496570.2:p.Lys294GlnfsTer8
ENST00000644555.2:c.646+93_646+97del ENSP00000494614.2:n.646+93_646+97del
ENST00000652672.2:c.739_743del ENSP00000498906.2:p.Lys247GlnfsTer8
ENST00000484087.6:c.664+93_664+97del ENSP00000419481.2:n.664+93_664+97del
ENST00000700182.1:c.706+93_706+97del ENSP00000514849.1:n.706+93_706+97del
ENST00000700183.1:c.*888_*892del ENSP00000514850.1:n.*888_*892del
ENST00000357654.9:c.880_884del MANE Select ENSP00000350283.3:p.Lys294GlnfsTer8
ENST00000471181.7:c.880_884del ENSP00000418960.2:p.Lys294GlnfsTer8
ENST00000642945.1:c.*754_*758del ENSP00000495897.1:n.*754_*758del
ENST00000652672.1:c.739_743del ENSP00000498906.1:p.Lys247GlnfsTer8
ENST00000352993.7:c.670+1195_670+1199del ENSP00000312236.5:n.670+1195_670+1199del
ENST00000354071.7:c.880_884del ENSP00000326002.7:p.Lys294GlnfsTer8
ENST00000357654.7:c.880_884del ENSP00000350283.3:p.Lys294GlnfsTer8
ENST00000412061.3:c.231_235del
ENST00000461221.5:c.*663_*667del ENSP00000418548.1:n.*663_*667del
ENST00000468300.5:c.787+93_787+97del ENSP00000417148.1:n.787+93_787+97del
ENST00000470026.5:c.880_884del ENSP00000419274.1:p.Lys294GlnfsTer8
ENST00000471181.6:c.880_884del ENSP00000418960.2:p.Lys294GlnfsTer8
ENST00000473961.5:c.477_481del
ENST00000477152.5:c.802_806del ENSP00000419988.1:p.Lys268GlnfsTer8
ENST00000478531.5:c.784+93_784+97del ENSP00000420412.1:n.784+93_784+97del
ENST00000484087.5:c.409+93_409+97del ENSP00000419481.1:n.409+93_409+97del
ENST00000487825.5:c.412+93_412+97del ENSP00000418212.1:n.412+93_412+97del
ENST00000491747.6:c.787+93_787+97del ENSP00000420705.2:n.787+93_787+97del
ENST00000492859.5:c.*816_*820del ENSP00000420253.1:n.*816_*820del
ENST00000493795.5:c.739_743del ENSP00000418775.1:p.Lys247GlnfsTer8
ENST00000493919.5:c.646+93_646+97del ENSP00000418819.1:n.646+93_646+97del
ENST00000494123.5:c.880_884del ENSP00000419103.1:p.Lys294GlnfsTer8
ENST00000497488.1:c.-9_-5del ENSP00000418986.1:n.-9_-5del
ENST00000586385.5:c.4+30531_4+30535del ENSP00000465818.1:n.4+30531_4+30535del
ENST00000591534.5:c.-43-20130_-43-20126del ENSP00000467329.1:n.-43-20130_-43-20126de...
ENST00000591849.5:c.-99+30620_-99+30624del ENSP00000465347.1:n.-99+30620_-99+30624de...
ENST00000634433.1:c.757_761del ENSP00000489431.1:p.Lys253GlnfsTer8
NM_007294.3:c.880_884del , LRG_292t1:c.880_884del NP_009225.1:p.Lys294GlnfsTer8
NM_007297.3:c.739_743del NP_009228.2:p.Lys247GlnfsTer8
NM_007298.3:c.787+93_787+97del NP_009229.2:n.787+93_787+97del
NM_007299.3:c.787+93_787+97del NP_009230.2:n.787+93_787+97del
NM_007300.3:c.880_884del NP_009231.2:p.Lys294GlnfsTer8
NR_027676.1:n.1016_1020del
NM_007294.4:c.880_884del MANE Select NP_009225.1:p.Lys294GlnfsTer8
NM_007297.4:c.739_743del NP_009228.2:p.Lys247GlnfsTer8
NM_007299.4:c.787+93_787+97del NP_009230.2:n.787+93_787+97del
NM_007300.4:c.880_884del NP_009231.2:p.Lys294GlnfsTer8
NR_027676.2:n.1057_1061del
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