Canonical Allele Identifier: CA2695225919

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076518_43076519delinsC , CM000679.2:g.43076518_43076519delinsC	GRCh38
NC_000017.10:g.41228535_41228536delinsC , CM000679.1:g.41228535_41228536delinsC	GRCh37
NC_000017.9:g.38482061_38482062delinsC	NCBI36
NG_005905.2:g.141465_141466delinsG , LRG_292:g.141465_141466delinsG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4450_4451delinsG	ENSP00000417241.2:p.Thr1484AlafsTer20
ENST00000470026.6:c.4453_4454delinsG	ENSP00000419274.2:p.Thr1485AlafsTer20
ENST00000473961.6:c.4327_4328delinsG	ENSP00000420201.2:p.Thr1443AlafsTer20
ENST00000476777.6:c.4447_4448delinsG	ENSP00000417554.2:p.Thr1483AlafsTer20
ENST00000477152.6:c.4375_4376delinsG	ENSP00000419988.2:p.Thr1459AlafsTer20
ENST00000478531.6:c.1141_1142delinsG	ENSP00000420412.2:p.Thr381AlafsTer20
ENST00000489037.2:c.4375_4376delinsG	ENSP00000420781.2:p.Thr1459AlafsTer20
ENST00000493919.6:c.1003_1004delinsG	ENSP00000418819.2:p.Thr335AlafsTer20
ENST00000494123.6:c.4453_4454delinsG	ENSP00000419103.2:p.Thr1485AlafsTer20
ENST00000497488.2:c.3565_3566delinsG	ENSP00000418986.2:p.Thr1189AlafsTer20
ENST00000618469.2:c.4453_4454delinsG	ENSP00000478114.2:p.Thr1485AlafsTer20
ENST00000634433.2:c.4330_4331delinsG	ENSP00000489431.2:p.Thr1444AlafsTer20
ENST00000644379.2:c.4519_4520delinsG	ENSP00000496570.2:p.Thr1507AlafsTer20
ENST00000644555.2:c.1003_1004delinsG	ENSP00000494614.2:p.Thr335AlafsTer20
ENST00000652672.2:c.4312_4313delinsG	ENSP00000498906.2:p.Thr1438AlafsTer20
ENST00000484087.6:c.1015_1016delinsG	ENSP00000419481.2:p.Thr339AlafsTer20
ENST00000700182.1:c.1060_1061delinsG	ENSP00000514849.1:p.Thr354AlafsTer20
ENST00000357654.9:c.4453_4454delinsG MANE Select	ENSP00000350283.3:p.Thr1485AlafsTer20
ENST00000471181.7:c.4516_4517delinsG	ENSP00000418960.2:p.Thr1506AlafsTer20
ENST00000644379.1:c.840_841delinsG
ENST00000352993.7:c.1027_1028delinsG	ENSP00000312236.5:p.Thr343AlafsTer20
ENST00000357654.7:c.4453_4454delinsG	ENSP00000350283.3:p.Thr1485AlafsTer20
ENST00000461221.5:c.*4236_*4237delinsG	ENSP00000418548.1:n.*4236_*4237delinsG
ENST00000468300.5:c.1141_1142delinsG	ENSP00000417148.1:p.Thr381AlafsTer20
ENST00000471181.6:c.4516_4517delinsG	ENSP00000418960.2:p.Thr1506AlafsTer20
ENST00000478531.5:c.1141_1142delinsG	ENSP00000420412.1:p.Thr381AlafsTer20
ENST00000484087.5:c.766_767delinsG	ENSP00000419481.1:p.Thr256AlafsTer20
ENST00000487825.5:c.769_770delinsG	ENSP00000418212.1:p.Thr257AlafsTer?
ENST00000491747.6:c.1141_1142delinsG	ENSP00000420705.2:p.Thr381AlafsTer20
ENST00000493795.5:c.4312_4313delinsG	ENSP00000418775.1:p.Thr1438AlafsTer20
ENST00000493919.5:c.1003_1004delinsG	ENSP00000418819.1:p.Thr335AlafsTer20
ENST00000586385.5:c.5-12568_5-12567delinsG	ENSP00000465818.1:n.5-12568_5-12567delins...
ENST00000591534.5:c.-43-1998_-43-1997delinsG	ENSP00000467329.1:n.-43-1998_-43-1997deli...
ENST00000591849.5:c.-98-26329_-98-26328delinsG	ENSP00000465347.1:n.-98-26329_-98-26328de...
ENST00000621897.1:n.344_345delinsG
NM_007294.3:c.4453_4454delinsG , LRG_292t1:c.4453_4454delinsG	NP_009225.1:p.Thr1485AlafsTer20
NM_007297.3:c.4312_4313delinsG	NP_009228.2:p.Thr1438AlafsTer20
NM_007298.3:c.1141_1142delinsG	NP_009229.2:p.Thr381AlafsTer20
NM_007299.3:c.1141_1142delinsG	NP_009230.2:p.Thr381AlafsTer20
NM_007300.3:c.4516_4517delinsG	NP_009231.2:p.Thr1506AlafsTer20
NR_027676.1:n.4589_4590delinsG
NM_007294.4:c.4453_4454delinsG MANE Select	NP_009225.1:p.Thr1485AlafsTer20
NM_007297.4:c.4312_4313delinsG	NP_009228.2:p.Thr1438AlafsTer20
NM_007299.4:c.1141_1142delinsG	NP_009230.2:p.Thr381AlafsTer20
NM_007300.4:c.4516_4517delinsG	NP_009231.2:p.Thr1506AlafsTer20
NR_027676.2:n.4630_4631delinsG