Canonical Allele Identifier: CA2260772793

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070977_43070978delinsAC , CM000679.2:g.43070977_43070978delinsAC	GRCh38
NC_000017.10:g.41222994_41222995delinsAC , CM000679.1:g.41222994_41222995delinsAC	GRCh37
NC_000017.9:g.38476520_38476521delinsAC	NCBI36
NG_005905.2:g.147006_147007delinsGT , LRG_292:g.147006_147007delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4933_4934delinsGT	ENSP00000417241.2:p.Val1645=
ENST00000470026.6:c.4936_4937delinsGT	ENSP00000419274.2:p.Val1646=
ENST00000473961.6:c.4810_4811delinsGT	ENSP00000420201.2:p.Val1604=
ENST00000476777.6:c.4930_4931delinsGT	ENSP00000417554.2:p.Val1644=
ENST00000477152.6:c.4858_4859delinsGT	ENSP00000419988.2:p.Val1620=
ENST00000478531.6:c.1624_1625delinsGT	ENSP00000420412.2:p.Val542=
ENST00000489037.2:c.4858_4859delinsGT	ENSP00000420781.2:p.Val1620=
ENST00000493919.6:c.1486_1487delinsGT	ENSP00000418819.2:p.Val496=
ENST00000494123.6:c.4936_4937delinsGT	ENSP00000419103.2:p.Val1646=
ENST00000497488.2:c.4048_4049delinsGT	ENSP00000418986.2:p.Val1350=
ENST00000618469.2:c.4936_4937delinsGT	ENSP00000478114.2:p.Val1646=
ENST00000634433.2:c.4813_4814delinsGT	ENSP00000489431.2:p.Val1605=
ENST00000644379.2:c.5002_5003delinsGT	ENSP00000496570.2:p.Val1668=
ENST00000644555.2:c.1486_1487delinsGT	ENSP00000494614.2:p.Val496=
ENST00000652672.2:c.4795_4796delinsGT	ENSP00000498906.2:p.Val1599=
ENST00000484087.6:c.1498_1499delinsGT	ENSP00000419481.2:p.Val500=
ENST00000700182.1:c.1543_1544delinsGT	ENSP00000514849.1:p.Val515=
ENST00000357654.9:c.4936_4937delinsGT MANE Select	ENSP00000350283.3:p.Val1646=
ENST00000471181.7:c.4999_5000delinsGT	ENSP00000418960.2:p.Val1667=
ENST00000644379.1:c.1323_1324delinsGT
ENST00000352993.7:c.1510_1511delinsGT	ENSP00000312236.5:p.Val504=
ENST00000357654.7:c.4936_4937delinsGT	ENSP00000350283.3:p.Val1646=
ENST00000461221.5:c.*4719_*4720delinsGT	ENSP00000418548.1:n.*4719_*4720delinsGT
ENST00000468300.5:c.1624_1625delinsGT	ENSP00000417148.1:p.Val542=
ENST00000471181.6:c.4999_5000delinsGT	ENSP00000418960.2:p.Val1667=
ENST00000472490.1:n.89_90delinsGT
ENST00000478531.5:c.1624_1625delinsGT	ENSP00000420412.1:p.Val542=
ENST00000484087.5:c.1249_1250delinsGT	ENSP00000419481.1:p.Val417=
ENST00000491747.6:c.1624_1625delinsGT	ENSP00000420705.2:p.Val542=
ENST00000493795.5:c.4795_4796delinsGT	ENSP00000418775.1:p.Val1599=
ENST00000493919.5:c.1486_1487delinsGT	ENSP00000418819.1:p.Val496=
ENST00000586385.5:c.5-7027_5-7026delinsGT	ENSP00000465818.1:n.5-7027_5-7026delinsGT...
ENST00000591534.5:c.409_410delinsGT	ENSP00000467329.1:p.Val137=
ENST00000591849.5:c.-98-20788_-98-20787delinsGT	ENSP00000465347.1:n.-98-20788_-98-20787de...
NM_007294.3:c.4936_4937delinsGT , LRG_292t1:c.4936_4937delinsGT	NP_009225.1:p.Val1646=
NM_007297.3:c.4795_4796delinsGT	NP_009228.2:p.Val1599=
NM_007298.3:c.1624_1625delinsGT	NP_009229.2:p.Val542=
NM_007299.3:c.1624_1625delinsGT	NP_009230.2:p.Val542=
NM_007300.3:c.4999_5000delinsGT	NP_009231.2:p.Val1667=
NR_027676.1:n.5072_5073delinsGT
NM_007294.4:c.4936_4937delinsGT MANE Select	NP_009225.1:p.Val1646=
NM_007297.4:c.4795_4796delinsGT	NP_009228.2:p.Val1599=
NM_007299.4:c.1624_1625delinsGT	NP_009230.2:p.Val542=
NM_007300.4:c.4999_5000delinsGT	NP_009231.2:p.Val1667=
NR_027676.2:n.5113_5114delinsGT