Canonical Allele Identifier: CA658824711

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548205
• ClinVar RCV Id: RCV000661041
• dbSNP Id: rs1555576840
• MyVariant Identifiers: chr17:g.41209076_41209077insG (hg19) ; chr17:g.43057059_43057060insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057059_43057060insG , CM000679.2:g.43057059_43057060insG	GRCh38
NC_000017.10:g.41209076_41209077insG , CM000679.1:g.41209076_41209077insG	GRCh37
NC_000017.9:g.38462602_38462603insG	NCBI36
NG_005905.2:g.160924_160925insC , LRG_292:g.160924_160925insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5266_5267insC	ENSP00000417241.2:p.Asp1756AlafsTer?
ENST00000470026.6:c.5269_5270insC	ENSP00000419274.2:p.Asp1757AlafsTer?
ENST00000473961.6:c.5143_5144insC	ENSP00000420201.2:p.Asp1715AlafsTer?
ENST00000476777.6:c.5263_5264insC	ENSP00000417554.2:p.Asp1755AlafsTer?
ENST00000477152.6:c.5191_5192insC	ENSP00000419988.2:p.Asp1731AlafsTer?
ENST00000478531.6:c.1957_1958insC	ENSP00000420412.2:p.Asp653AlafsTer?
ENST00000489037.2:c.5191_5192insC	ENSP00000420781.2:p.Asp1731AlafsTer?
ENST00000493919.6:c.1819_1820insC	ENSP00000418819.2:p.Asp607AlafsTer?
ENST00000494123.6:c.5269_5270insC	ENSP00000419103.2:p.Asp1757AlafsTer?
ENST00000497488.2:c.4381_4382insC	ENSP00000418986.2:p.Asp1461AlafsTer?
ENST00000618469.2:c.5269_5270insC	ENSP00000478114.2:p.Asp1757AlafsTer?
ENST00000634433.2:c.5146_5147insC	ENSP00000489431.2:p.Asp1716AlafsTer?
ENST00000644379.2:c.5335_5336insC	ENSP00000496570.2:p.Asp1779AlafsTer?
ENST00000644555.2:c.1819_1820insC	ENSP00000494614.2:p.Asp607AlafsTer?
ENST00000652672.2:c.5128_5129insC	ENSP00000498906.2:p.Asp1710AlafsTer?
ENST00000484087.6:c.1831_1832insC	ENSP00000419481.2:p.Asp611AlafsTer?
ENST00000357654.9:c.5269_5270insC MANE Select	ENSP00000350283.3:p.Asp1757AlafsTer?
ENST00000471181.7:c.5332_5333insC	ENSP00000418960.2:p.Asp1778AlafsTer?
ENST00000644379.1:c.1656_1657insC
ENST00000352993.7:c.1843_1844insC	ENSP00000312236.5:p.Asp615AlafsTer?
ENST00000357654.7:c.5269_5270insC	ENSP00000350283.3:p.Asp1757AlafsTer?
ENST00000461221.5:c.*5052_*5053insC	ENSP00000418548.1:n.*5052_*5053insC
ENST00000468300.5:c.1957_1958insC	ENSP00000417148.1:p.Asp653AlafsTer?
ENST00000471181.6:c.5332_5333insC	ENSP00000418960.2:p.Asp1778AlafsTer?
ENST00000491747.6:c.1957_1958insC	ENSP00000420705.2:p.Asp653AlafsTer?
ENST00000493795.5:c.5128_5129insC	ENSP00000418775.1:p.Asp1710AlafsTer?
ENST00000586385.5:c.199_200insC	ENSP00000465818.1:p.Asp67AlafsTer?
ENST00000591534.5:c.742_743insC	ENSP00000467329.1:p.Asp248AlafsTer?
ENST00000591849.5:c.-98-6870_-98-6869insC	ENSP00000465347.1:n.-98-6870_-98-6869insC
NM_007294.3:c.5269_5270insC , LRG_292t1:c.5269_5270insC	NP_009225.1:p.Asp1757AlafsTer?
NM_007297.3:c.5128_5129insC	NP_009228.2:p.Asp1710AlafsTer?
NM_007298.3:c.1957_1958insC	NP_009229.2:p.Asp653AlafsTer?
NM_007299.3:c.1957_1958insC	NP_009230.2:p.Asp653AlafsTer?
NM_007300.3:c.5332_5333insC	NP_009231.2:p.Asp1778AlafsTer?
NR_027676.1:n.5405_5406insC
NM_007294.4:c.5269_5270insC MANE Select	NP_009225.1:p.Asp1757AlafsTer?
NM_007297.4:c.5128_5129insC	NP_009228.2:p.Asp1710AlafsTer?
NM_007299.4:c.1957_1958insC	NP_009230.2:p.Asp653AlafsTer?
NM_007300.4:c.5332_5333insC	NP_009231.2:p.Asp1778AlafsTer?
NR_027676.2:n.5446_5447insC