Canonical Allele Identifier: CA2582342171

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2583816
• ClinVar RCV Id: RCV003334738

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071026_43071033del , CM000679.2:g.43071026_43071033del	GRCh38
NC_000017.10:g.41223043_41223050del , CM000679.1:g.41223043_41223050del	GRCh37
NC_000017.9:g.38476569_38476576del	NCBI36
NG_005905.2:g.146953_146960del , LRG_292:g.146953_146960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4880_4887del	ENSP00000417241.2:p.Met1627LysfsTer?
ENST00000470026.6:c.4883_4890del	ENSP00000419274.2:p.Met1628LysfsTer?
ENST00000473961.6:c.4757_4764del	ENSP00000420201.2:p.Met1586LysfsTer?
ENST00000476777.6:c.4877_4884del	ENSP00000417554.2:p.Met1626LysfsTer?
ENST00000477152.6:c.4805_4812del	ENSP00000419988.2:p.Met1602LysfsTer?
ENST00000478531.6:c.1571_1578del	ENSP00000420412.2:p.Met524LysfsTer?
ENST00000489037.2:c.4805_4812del	ENSP00000420781.2:p.Met1602LysfsTer?
ENST00000493919.6:c.1433_1440del	ENSP00000418819.2:p.Met478LysfsTer?
ENST00000494123.6:c.4883_4890del	ENSP00000419103.2:p.Met1628LysfsTer?
ENST00000497488.2:c.3995_4002del	ENSP00000418986.2:p.Met1332LysfsTer?
ENST00000618469.2:c.4883_4890del	ENSP00000478114.2:p.Met1628LysfsTer?
ENST00000634433.2:c.4760_4767del	ENSP00000489431.2:p.Met1587LysfsTer?
ENST00000644379.2:c.4949_4956del	ENSP00000496570.2:p.Met1650LysfsTer?
ENST00000644555.2:c.1433_1440del	ENSP00000494614.2:p.Met478LysfsTer?
ENST00000652672.2:c.4742_4749del	ENSP00000498906.2:p.Met1581LysfsTer?
ENST00000484087.6:c.1445_1452del	ENSP00000419481.2:p.Met482LysfsTer?
ENST00000700182.1:c.1490_1497del	ENSP00000514849.1:p.Met497LysfsTer?
ENST00000357654.9:c.4883_4890del MANE Select	ENSP00000350283.3:p.Met1628LysfsTer?
ENST00000471181.7:c.4946_4953del	ENSP00000418960.2:p.Met1649LysfsTer?
ENST00000644379.1:c.1270_1277del
ENST00000352993.7:c.1457_1464del	ENSP00000312236.5:p.Met486LysfsTer?
ENST00000357654.7:c.4883_4890del	ENSP00000350283.3:p.Met1628LysfsTer?
ENST00000461221.5:c.*4666_*4673del	ENSP00000418548.1:n.*4666_*4673del
ENST00000468300.5:c.1571_1578del	ENSP00000417148.1:p.Met524LysfsTer?
ENST00000471181.6:c.4946_4953del	ENSP00000418960.2:p.Met1649LysfsTer?
ENST00000472490.1:n.36_43del
ENST00000478531.5:c.1571_1578del	ENSP00000420412.1:p.Met524LysfsTer?
ENST00000484087.5:c.1196_1203del	ENSP00000419481.1:p.Met399LysfsTer?
ENST00000491747.6:c.1571_1578del	ENSP00000420705.2:p.Met524LysfsTer?
ENST00000493795.5:c.4742_4749del	ENSP00000418775.1:p.Met1581LysfsTer?
ENST00000493919.5:c.1433_1440del	ENSP00000418819.1:p.Met478LysfsTer?
ENST00000586385.5:c.5-7080_5-7073del	ENSP00000465818.1:n.5-7080_5-7073del
ENST00000591534.5:c.356_363del	ENSP00000467329.1:p.Met119LysfsTer?
ENST00000591849.5:c.-98-20841_-98-20834del	ENSP00000465347.1:n.-98-20841_-98-20834del
NM_007294.3:c.4883_4890del , LRG_292t1:c.4883_4890del	NP_009225.1:p.Met1628LysfsTer?
NM_007297.3:c.4742_4749del	NP_009228.2:p.Met1581LysfsTer?
NM_007298.3:c.1571_1578del	NP_009229.2:p.Met524LysfsTer?
NM_007299.3:c.1571_1578del	NP_009230.2:p.Met524LysfsTer?
NM_007300.3:c.4946_4953del	NP_009231.2:p.Met1649LysfsTer?
NR_027676.1:n.5019_5026del
NM_007294.4:c.4883_4890del MANE Select	NP_009225.1:p.Met1628LysfsTer?
NM_007297.4:c.4742_4749del	NP_009228.2:p.Met1581LysfsTer?
NM_007299.4:c.1571_1578del	NP_009230.2:p.Met524LysfsTer?
NM_007300.4:c.4946_4953del	NP_009231.2:p.Met1649LysfsTer?
NR_027676.2:n.5060_5067del