Canonical Allele Identifier: CA003412

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 185261
• ClinVar RCV Id: RCV000164650 ; RCV000241228
• dbSNP Id: rs786202040
• MyVariant Identifiers: chr17:g.41209073_41209077del (hg19) ; chr17:g.43057056_43057060del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057059_43057063del , CM000679.2:g.43057059_43057063del	GRCh38
NC_000017.10:g.41209076_41209080del , CM000679.1:g.41209076_41209080del	GRCh37
NC_000017.9:g.38462602_38462606del	NCBI36
NG_005905.2:g.160924_160928del , LRG_292:g.160924_160928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5266_5270del	ENSP00000417241.2:p.Asp1756LysfsTer?
ENST00000470026.6:c.5269_5273del	ENSP00000419274.2:p.Asp1757LysfsTer?
ENST00000473961.6:c.5143_5147del	ENSP00000420201.2:p.Asp1715LysfsTer?
ENST00000476777.6:c.5263_5267del	ENSP00000417554.2:p.Asp1755LysfsTer?
ENST00000477152.6:c.5191_5195del	ENSP00000419988.2:p.Asp1731LysfsTer?
ENST00000478531.6:c.1957_1961del	ENSP00000420412.2:p.Asp653LysfsTer?
ENST00000489037.2:c.5191_5195del	ENSP00000420781.2:p.Asp1731LysfsTer?
ENST00000493919.6:c.1819_1823del	ENSP00000418819.2:p.Asp607LysfsTer?
ENST00000494123.6:c.5269_5273del	ENSP00000419103.2:p.Asp1757LysfsTer?
ENST00000497488.2:c.4381_4385del	ENSP00000418986.2:p.Asp1461LysfsTer?
ENST00000618469.2:c.5269_5273del	ENSP00000478114.2:p.Asp1757LysfsTer?
ENST00000634433.2:c.5146_5150del	ENSP00000489431.2:p.Asp1716LysfsTer?
ENST00000644379.2:c.5335_5339del	ENSP00000496570.2:p.Asp1779LysfsTer?
ENST00000644555.2:c.1819_1823del	ENSP00000494614.2:p.Asp607LysfsTer?
ENST00000652672.2:c.5128_5132del	ENSP00000498906.2:p.Asp1710LysfsTer?
ENST00000484087.6:c.1831_1835del	ENSP00000419481.2:p.Asp611LysfsTer?
ENST00000357654.9:c.5269_5273del MANE Select	ENSP00000350283.3:p.Asp1757LysfsTer?
ENST00000471181.7:c.5332_5336del	ENSP00000418960.2:p.Asp1778LysfsTer?
ENST00000644379.1:c.1656_1660del
ENST00000352993.7:c.1843_1847del	ENSP00000312236.5:p.Asp615LysfsTer?
ENST00000357654.7:c.5269_5273del	ENSP00000350283.3:p.Asp1757LysfsTer?
ENST00000461221.5:c.*5052_*5056del	ENSP00000418548.1:n.*5052_*5056del
ENST00000468300.5:c.1957_1961del	ENSP00000417148.1:p.Asp653LysfsTer?
ENST00000471181.6:c.5332_5336del	ENSP00000418960.2:p.Asp1778LysfsTer?
ENST00000491747.6:c.1957_1961del	ENSP00000420705.2:p.Asp653LysfsTer?
ENST00000493795.5:c.5128_5132del	ENSP00000418775.1:p.Asp1710LysfsTer?
ENST00000586385.5:c.199_203del	ENSP00000465818.1:p.Asp67LysfsTer?
ENST00000591534.5:c.742_746del	ENSP00000467329.1:p.Asp248LysfsTer?
ENST00000591849.5:c.-98-6870_-98-6866del	ENSP00000465347.1:n.-98-6870_-98-6866del
NM_007294.3:c.5269_5273del , LRG_292t1:c.5269_5273del	NP_009225.1:p.Asp1757LysfsTer?
NM_007297.3:c.5128_5132del	NP_009228.2:p.Asp1710LysfsTer?
NM_007298.3:c.1957_1961del	NP_009229.2:p.Asp653LysfsTer?
NM_007299.3:c.1957_1961del	NP_009230.2:p.Asp653LysfsTer?
NM_007300.3:c.5332_5336del	NP_009231.2:p.Asp1778LysfsTer?
NR_027676.1:n.5405_5409del
NM_007294.4:c.5269_5273del MANE Select	NP_009225.1:p.Asp1757LysfsTer?
NM_007297.4:c.5128_5132del	NP_009228.2:p.Asp1710LysfsTer?
NM_007299.4:c.1957_1961del	NP_009230.2:p.Asp653LysfsTer?
NM_007300.4:c.5332_5336del	NP_009231.2:p.Asp1778LysfsTer?
NR_027676.2:n.5446_5450del