Canonical Allele Identifier: CA2260761883

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047494_43047495delinsTA , CM000679.2:g.43047494_43047495delinsTA	GRCh38
NC_000017.10:g.41199511_41199512delinsTA , CM000679.1:g.41199511_41199512delinsTA	GRCh37
NC_000017.9:g.38453037_38453038delinsTA	NCBI36
NG_005905.2:g.170489_170490delinsTA , LRG_292:g.170489_170490delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5464+148_5464+149delinsTA	ENSP00000417241.2:n.5464+148_5464+149deli...
ENST00000470026.6:c.5467+148_5467+149delinsTA	ENSP00000419274.2:n.5467+148_5467+149deli...
ENST00000473961.6:c.5341+148_5341+149delinsTA	ENSP00000420201.2:n.5341+148_5341+149deli...
ENST00000476777.6:c.5461+148_5461+149delinsTA	ENSP00000417554.2:n.5461+148_5461+149deli...
ENST00000477152.6:c.5389+148_5389+149delinsTA	ENSP00000419988.2:n.5389+148_5389+149deli...
ENST00000478531.6:c.2155+148_2155+149delinsTA	ENSP00000420412.2:n.2155+148_2155+149deli...
ENST00000489037.2:c.5389+148_5389+149delinsTA	ENSP00000420781.2:n.5389+148_5389+149deli...
ENST00000493919.6:c.2017+148_2017+149delinsTA	ENSP00000418819.2:n.2017+148_2017+149deli...
ENST00000494123.6:c.5467+148_5467+149delinsTA	ENSP00000419103.2:n.5467+148_5467+149deli...
ENST00000497488.2:c.4579+148_4579+149delinsTA	ENSP00000418986.2:n.4579+148_4579+149deli...
ENST00000618469.2:c.5467+148_5467+149delinsTA	ENSP00000478114.2:n.5467+148_5467+149deli...
ENST00000634433.2:c.5344+148_5344+149delinsTA	ENSP00000489431.2:n.5344+148_5344+149deli...
ENST00000644379.2:c.5533+148_5533+149delinsTA	ENSP00000496570.2:n.5533+148_5533+149deli...
ENST00000644555.2:c.2017+148_2017+149delinsTA	ENSP00000494614.2:n.2017+148_2017+149deli...
ENST00000652672.2:c.5326+148_5326+149delinsTA	ENSP00000498906.2:n.5326+148_5326+149deli...
ENST00000484087.6:c.2029+148_2029+149delinsTA	ENSP00000419481.2:n.2029+148_2029+149deli...
ENST00000700081.1:n.1350+148_1350+149delinsTA
ENST00000700082.1:n.831+148_831+149delinsTA
ENST00000357654.9:c.5467+148_5467+149delinsTA MANE Select	ENSP00000350283.3:n.5467+148_5467+149deli...
ENST00000471181.7:c.5530+148_5530+149delinsTA	ENSP00000418960.2:n.5530+148_5530+149deli...
ENST00000644379.1:c.1854+148_1854+149delinsTA
ENST00000352993.7:c.2041+148_2041+149delinsTA	ENSP00000312236.5:n.2041+148_2041+149deli...
ENST00000357654.7:c.5467+148_5467+149delinsTA	ENSP00000350283.3:n.5467+148_5467+149deli...
ENST00000461221.5:c.*5250+148_*5250+149delinsTA	ENSP00000418548.1:n.*5250+148_*5250+149de...
ENST00000468300.5:c.2081+148_2081+149delinsTA	ENSP00000417148.1:n.2081+148_2081+149deli...
ENST00000471181.6:c.5530+148_5530+149delinsTA	ENSP00000418960.2:n.5530+148_5530+149deli...
ENST00000491747.6:c.2155+148_2155+149delinsTA	ENSP00000420705.2:n.2155+148_2155+149deli...
ENST00000493795.5:c.5326+148_5326+149delinsTA	ENSP00000418775.1:n.5326+148_5326+149deli...
ENST00000586385.5:c.397+148_397+149delinsTA	ENSP00000465818.1:n.397+148_397+149delins...
ENST00000591534.5:c.940+148_940+149delinsTA	ENSP00000467329.1:n.940+148_940+149delins...
ENST00000591849.5:c.166+148_166+149delinsTA	ENSP00000465347.1:n.166+148_166+149delins...
NM_007294.3:c.5467+148_5467+149delinsTA , LRG_292t1:c.5467+148_5467+149delinsTA	NP_009225.1:n.5467+148_5467+149delinsTA
NM_007297.3:c.5326+148_5326+149delinsTA	NP_009228.2:n.5326+148_5326+149delinsTA
NM_007298.3:c.2155+148_2155+149delinsTA	NP_009229.2:n.2155+148_2155+149delinsTA
NM_007299.3:c.2081+148_2081+149delinsTA	NP_009230.2:n.2081+148_2081+149delinsTA
NM_007300.3:c.5530+148_5530+149delinsTA	NP_009231.2:n.5530+148_5530+149delinsTA
NR_027676.1:n.5603+148_5603+149delinsTA
NM_007294.4:c.5467+148_5467+149delinsTA MANE Select	NP_009225.1:n.5467+148_5467+149delinsTA
NM_007297.4:c.5326+148_5326+149delinsTA	NP_009228.2:n.5326+148_5326+149delinsTA
NM_007299.4:c.2081+148_2081+149delinsTA	NP_009230.2:n.2081+148_2081+149delinsTA
NM_007300.4:c.5530+148_5530+149delinsTA	NP_009231.2:n.5530+148_5530+149delinsTA
NR_027676.2:n.5644+148_5644+149delinsTA