Canonical Allele Identifier: CA658761215

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548311
• ClinVar RCV Id: RCV000661353 ; RCV001861723
• dbSNP Id: rs1555587135
• MyVariant Identifiers: chr17:g.41243789_41243790del (hg19) ; chr17:g.43091772_43091773del (hg38)
• PubMed: PMID:23961350

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091773_43091774del , CM000679.2:g.43091773_43091774del	GRCh38
NC_000017.10:g.41243790_41243791del , CM000679.1:g.41243790_41243791del	GRCh37
NC_000017.9:g.38497316_38497317del	NCBI36
NG_005905.2:g.126211_126212del , LRG_292:g.126211_126212del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3822_3823del
ENST00000461574.2:c.3758_3759del	ENSP00000417241.2:p.Ser1253Ter
ENST00000470026.6:c.3758_3759del	ENSP00000419274.2:p.Ser1253Ter
ENST00000473961.6:c.3632_3633del	ENSP00000420201.2:p.Ser1211Ter
ENST00000476777.6:c.3755_3756del	ENSP00000417554.2:p.Ser1252Ter
ENST00000477152.6:c.3680_3681del	ENSP00000419988.2:p.Ser1227Ter
ENST00000478531.6:c.785-741_785-740del	ENSP00000420412.2:n.785-741_785-740del
ENST00000489037.2:c.3680_3681del	ENSP00000420781.2:p.Ser1227Ter
ENST00000493919.6:c.647-741_647-740del	ENSP00000418819.2:n.647-741_647-740del
ENST00000494123.6:c.3758_3759del	ENSP00000419103.2:p.Ser1253Ter
ENST00000497488.2:c.2870_2871del	ENSP00000418986.2:p.Ser957Ter
ENST00000618469.2:c.3758_3759del	ENSP00000478114.2:p.Ser1253Ter
ENST00000634433.2:c.3635_3636del	ENSP00000489431.2:p.Ser1212Ter
ENST00000644379.2:c.3758_3759del	ENSP00000496570.2:p.Ser1253Ter
ENST00000644555.2:c.647-741_647-740del	ENSP00000494614.2:n.647-741_647-740del
ENST00000652672.2:c.3617_3618del	ENSP00000498906.2:p.Ser1206Ter
ENST00000484087.6:c.665-741_665-740del	ENSP00000419481.2:n.665-741_665-740del
ENST00000700182.1:c.707-741_707-740del	ENSP00000514849.1:n.707-741_707-740del
ENST00000357654.9:c.3758_3759del MANE Select	ENSP00000350283.3:p.Ser1253Ter
ENST00000471181.7:c.3758_3759del	ENSP00000418960.2:p.Ser1253Ter
ENST00000644379.1:c.79_80del
ENST00000352993.7:c.671-741_671-740del	ENSP00000312236.5:n.671-741_671-740del
ENST00000354071.7:c.3758_3759del	ENSP00000326002.7:p.Ser1253Ter
ENST00000357654.7:c.3758_3759del	ENSP00000350283.3:p.Ser1253Ter
ENST00000461221.5:c.*3541_*3542del	ENSP00000418548.1:n.*3541_*3542del
ENST00000461574.1:c.52_53del
ENST00000468300.5:c.788-741_788-740del	ENSP00000417148.1:n.788-741_788-740del
ENST00000471181.6:c.3758_3759del	ENSP00000418960.2:p.Ser1253Ter
ENST00000478531.5:c.785-741_785-740del	ENSP00000420412.1:n.785-741_785-740del
ENST00000484087.5:c.410-741_410-740del	ENSP00000419481.1:n.410-741_410-740del
ENST00000487825.5:c.413-741_413-740del	ENSP00000418212.1:n.413-741_413-740del
ENST00000491747.6:c.788-741_788-740del	ENSP00000420705.2:n.788-741_788-740del
ENST00000493795.5:c.3617_3618del	ENSP00000418775.1:p.Ser1206Ter
ENST00000493919.5:c.647-741_647-740del	ENSP00000418819.1:n.647-741_647-740del
ENST00000586385.5:c.5-27822_5-27821del	ENSP00000465818.1:n.5-27822_5-27821del
ENST00000591534.5:c.-43-17252_-43-17251del	ENSP00000467329.1:n.-43-17252_-43-17251de...
ENST00000591849.5:c.-99+33498_-99+33499del	ENSP00000465347.1:n.-99+33498_-99+33499de...
NM_007294.3:c.3758_3759del , LRG_292t1:c.3758_3759del	NP_009225.1:p.Ser1253Ter
NM_007297.3:c.3617_3618del	NP_009228.2:p.Ser1206Ter
NM_007298.3:c.788-741_788-740del	NP_009229.2:n.788-741_788-740del
NM_007299.3:c.788-741_788-740del	NP_009230.2:n.788-741_788-740del
NM_007300.3:c.3758_3759del	NP_009231.2:p.Ser1253Ter
NR_027676.1:n.3894_3895del
NM_007294.4:c.3758_3759del MANE Select	NP_009225.1:p.Ser1253Ter
NM_007297.4:c.3617_3618del	NP_009228.2:p.Ser1206Ter
NM_007299.4:c.788-741_788-740del	NP_009230.2:n.788-741_788-740del
NM_007300.4:c.3758_3759del	NP_009231.2:p.Ser1253Ter
NR_027676.2:n.3935_3936del