Canonical Allele Identifier: CA002919
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55234
ClinVar RCV Id: RCV000112361 RCV000496644 RCV001022755
dbSNP Id: rs80357699
MyVariant Identifiers: chr17:g.41226427_41226428insAG (hg19) chr17:g.43074410_43074411insAG (hg38)
PubMed: PMID:9042907
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43074411_43074412insGA , CM000679.2:g.43074411_43074412insGA GRCh38
NC_000017.10:g.41226428_41226429insGA , CM000679.1:g.41226428_41226429insGA GRCh37
NC_000017.9:g.38479954_38479955insGA NCBI36
NG_005905.2:g.143573_143574insCT , LRG_292:g.143573_143574insCT

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4592_4593insCT ENSP00000417241.2:p.Asp1532LeufsTer16
ENST00000470026.6:c.4595_4596insCT ENSP00000419274.2:p.Asp1533LeufsTer16
ENST00000473961.6:c.4469_4470insCT ENSP00000420201.2:p.Asp1491LeufsTer16
ENST00000476777.6:c.4589_4590insCT ENSP00000417554.2:p.Asp1531LeufsTer16
ENST00000477152.6:c.4517_4518insCT ENSP00000419988.2:p.Asp1507LeufsTer16
ENST00000478531.6:c.1283_1284insCT ENSP00000420412.2:p.Asp429LeufsTer16
ENST00000489037.2:c.4517_4518insCT ENSP00000420781.2:p.Asp1507LeufsTer16
ENST00000493919.6:c.1145_1146insCT ENSP00000418819.2:p.Asp383LeufsTer16
ENST00000494123.6:c.4595_4596insCT ENSP00000419103.2:p.Asp1533LeufsTer16
ENST00000497488.2:c.3707_3708insCT ENSP00000418986.2:p.Asp1237LeufsTer16
ENST00000618469.2:c.4595_4596insCT ENSP00000478114.2:p.Asp1533LeufsTer16
ENST00000634433.2:c.4472_4473insCT ENSP00000489431.2:p.Asp1492LeufsTer16
ENST00000644379.2:c.4661_4662insCT ENSP00000496570.2:p.Asp1555LeufsTer16
ENST00000644555.2:c.1145_1146insCT ENSP00000494614.2:p.Asp383LeufsTer16
ENST00000652672.2:c.4454_4455insCT ENSP00000498906.2:p.Asp1486LeufsTer16
ENST00000484087.6:c.1157_1158insCT ENSP00000419481.2:p.Asp387LeufsTer16
ENST00000700182.1:c.1202_1203insCT ENSP00000514849.1:p.Asp402LeufsTer16
ENST00000357654.9:c.4595_4596insCT MANE Select ENSP00000350283.3:p.Asp1533LeufsTer16
ENST00000471181.7:c.4658_4659insCT ENSP00000418960.2:p.Asp1554LeufsTer16
ENST00000644379.1:c.982_983insCT
ENST00000352993.7:c.1169_1170insCT ENSP00000312236.5:p.Asp391LeufsTer16
ENST00000357654.7:c.4595_4596insCT ENSP00000350283.3:p.Asp1533LeufsTer16
ENST00000461221.5:c.*4378_*4379insCT ENSP00000418548.1:n.*4378_*4379insCT
ENST00000468300.5:c.1283_1284insCT ENSP00000417148.1:p.Asp429LeufsTer16
ENST00000471181.6:c.4658_4659insCT ENSP00000418960.2:p.Asp1554LeufsTer16
ENST00000478531.5:c.1283_1284insCT ENSP00000420412.1:p.Asp429LeufsTer16
ENST00000484087.5:c.908_909insCT ENSP00000419481.1:p.Asp304LeufsTer16
ENST00000491747.6:c.1283_1284insCT ENSP00000420705.2:p.Asp429LeufsTer16
ENST00000493795.5:c.4454_4455insCT ENSP00000418775.1:p.Asp1486LeufsTer16
ENST00000493919.5:c.1145_1146insCT ENSP00000418819.1:p.Asp383LeufsTer16
ENST00000586385.5:c.5-10460_5-10459insCT ENSP00000465818.1:n.5-10460_5-10459insCT
ENST00000591534.5:c.68_69insCT ENSP00000467329.1:p.Asp24LeufsTer16
ENST00000591849.5:c.-98-24221_-98-24220insCT ENSP00000465347.1:n.-98-24221_-98-24220in...
NM_007294.3:c.4595_4596insCT , LRG_292t1:c.4595_4596insCT NP_009225.1:p.Asp1533LeufsTer16
NM_007297.3:c.4454_4455insCT NP_009228.2:p.Asp1486LeufsTer16
NM_007298.3:c.1283_1284insCT NP_009229.2:p.Asp429LeufsTer16
NM_007299.3:c.1283_1284insCT NP_009230.2:p.Asp429LeufsTer16
NM_007300.3:c.4658_4659insCT NP_009231.2:p.Asp1554LeufsTer16
NR_027676.1:n.4731_4732insCT
NM_007294.4:c.4595_4596insCT MANE Select NP_009225.1:p.Asp1533LeufsTer16
NM_007297.4:c.4454_4455insCT NP_009228.2:p.Asp1486LeufsTer16
NM_007299.4:c.1283_1284insCT NP_009230.2:p.Asp429LeufsTer16
NM_007300.4:c.4658_4659insCT NP_009231.2:p.Asp1554LeufsTer16
NR_027676.2:n.4772_4773insCT
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