Canonical Allele Identifier: CA2638060543

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43047778-TTGTTTGTTTTTGAGACAGGGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047780_43047801del , CM000679.2:g.43047780_43047801del	GRCh38
NC_000017.10:g.41199797_41199818del , CM000679.1:g.41199797_41199818del	GRCh37
NC_000017.9:g.38453323_38453344del	NCBI36
NG_005905.2:g.170184_170205del , LRG_292:g.170184_170205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5404-97_5404-76del	ENSP00000417241.2:n.5404-97_5404-76del
ENST00000470026.6:c.5407-97_5407-76del	ENSP00000419274.2:n.5407-97_5407-76del
ENST00000473961.6:c.5281-97_5281-76del	ENSP00000420201.2:n.5281-97_5281-76del
ENST00000476777.6:c.5401-97_5401-76del	ENSP00000417554.2:n.5401-97_5401-76del
ENST00000477152.6:c.5329-97_5329-76del	ENSP00000419988.2:n.5329-97_5329-76del
ENST00000478531.6:c.2095-97_2095-76del	ENSP00000420412.2:n.2095-97_2095-76del
ENST00000489037.2:c.5329-97_5329-76del	ENSP00000420781.2:n.5329-97_5329-76del
ENST00000493919.6:c.1957-97_1957-76del	ENSP00000418819.2:n.1957-97_1957-76del
ENST00000494123.6:c.5407-97_5407-76del	ENSP00000419103.2:n.5407-97_5407-76del
ENST00000497488.2:c.4519-97_4519-76del	ENSP00000418986.2:n.4519-97_4519-76del
ENST00000618469.2:c.5407-97_5407-76del	ENSP00000478114.2:n.5407-97_5407-76del
ENST00000634433.2:c.5284-97_5284-76del	ENSP00000489431.2:n.5284-97_5284-76del
ENST00000644379.2:c.5473-97_5473-76del	ENSP00000496570.2:n.5473-97_5473-76del
ENST00000644555.2:c.1957-97_1957-76del	ENSP00000494614.2:n.1957-97_1957-76del
ENST00000652672.2:c.5266-97_5266-76del	ENSP00000498906.2:n.5266-97_5266-76del
ENST00000484087.6:c.1969-97_1969-76del	ENSP00000419481.2:n.1969-97_1969-76del
ENST00000700081.1:n.1290-97_1290-76del
ENST00000700082.1:n.674_695del
ENST00000357654.9:c.5407-97_5407-76del MANE Select	ENSP00000350283.3:n.5407-97_5407-76del
ENST00000471181.7:c.5470-97_5470-76del	ENSP00000418960.2:n.5470-97_5470-76del
ENST00000644379.1:c.1794-97_1794-76del
ENST00000352993.7:c.1981-97_1981-76del	ENSP00000312236.5:n.1981-97_1981-76del
ENST00000357654.7:c.5407-97_5407-76del	ENSP00000350283.3:n.5407-97_5407-76del
ENST00000461221.5:c.*5190-97_*5190-76del	ENSP00000418548.1:n.*5190-97_*5190-76del
ENST00000468300.5:c.2021-97_2021-76del	ENSP00000417148.1:n.2021-97_2021-76del
ENST00000471181.6:c.5470-97_5470-76del	ENSP00000418960.2:n.5470-97_5470-76del
ENST00000491747.6:c.2095-97_2095-76del	ENSP00000420705.2:n.2095-97_2095-76del
ENST00000493795.5:c.5266-97_5266-76del	ENSP00000418775.1:n.5266-97_5266-76del
ENST00000586385.5:c.337-97_337-76del	ENSP00000465818.1:n.337-97_337-76del
ENST00000591534.5:c.880-97_880-76del	ENSP00000467329.1:n.880-97_880-76del
ENST00000591849.5:c.106-97_106-76del	ENSP00000465347.1:n.106-97_106-76del
NM_007294.3:c.5407-97_5407-76del , LRG_292t1:c.5407-97_5407-76del	NP_009225.1:n.5407-97_5407-76del
NM_007297.3:c.5266-97_5266-76del	NP_009228.2:n.5266-97_5266-76del
NM_007298.3:c.2095-97_2095-76del	NP_009229.2:n.2095-97_2095-76del
NM_007299.3:c.2021-97_2021-76del	NP_009230.2:n.2021-97_2021-76del
NM_007300.3:c.5470-97_5470-76del	NP_009231.2:n.5470-97_5470-76del
NR_027676.1:n.5543-97_5543-76del
NM_007294.4:c.5407-97_5407-76del MANE Select	NP_009225.1:n.5407-97_5407-76del
NM_007297.4:c.5266-97_5266-76del	NP_009228.2:n.5266-97_5266-76del
NM_007299.4:c.2021-97_2021-76del	NP_009230.2:n.2021-97_2021-76del
NM_007300.4:c.5470-97_5470-76del	NP_009231.2:n.5470-97_5470-76del
NR_027676.2:n.5584-97_5584-76del