Canonical Allele Identifier: CA2638060525

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43047753-TGGAACTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047754_43047760del , CM000679.2:g.43047754_43047760del	GRCh38
NC_000017.10:g.41199771_41199777del , CM000679.1:g.41199771_41199777del	GRCh37
NC_000017.9:g.38453297_38453303del	NCBI36
NG_005905.2:g.170224_170230del , LRG_292:g.170224_170230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5404-57_5404-51del	ENSP00000417241.2:n.5404-57_5404-51del
ENST00000470026.6:c.5407-57_5407-51del	ENSP00000419274.2:n.5407-57_5407-51del
ENST00000473961.6:c.5281-57_5281-51del	ENSP00000420201.2:n.5281-57_5281-51del
ENST00000476777.6:c.5401-57_5401-51del	ENSP00000417554.2:n.5401-57_5401-51del
ENST00000477152.6:c.5329-57_5329-51del	ENSP00000419988.2:n.5329-57_5329-51del
ENST00000478531.6:c.2095-57_2095-51del	ENSP00000420412.2:n.2095-57_2095-51del
ENST00000489037.2:c.5329-57_5329-51del	ENSP00000420781.2:n.5329-57_5329-51del
ENST00000493919.6:c.1957-57_1957-51del	ENSP00000418819.2:n.1957-57_1957-51del
ENST00000494123.6:c.5407-57_5407-51del	ENSP00000419103.2:n.5407-57_5407-51del
ENST00000497488.2:c.4519-57_4519-51del	ENSP00000418986.2:n.4519-57_4519-51del
ENST00000618469.2:c.5407-57_5407-51del	ENSP00000478114.2:n.5407-57_5407-51del
ENST00000634433.2:c.5284-57_5284-51del	ENSP00000489431.2:n.5284-57_5284-51del
ENST00000644379.2:c.5473-57_5473-51del	ENSP00000496570.2:n.5473-57_5473-51del
ENST00000644555.2:c.1957-57_1957-51del	ENSP00000494614.2:n.1957-57_1957-51del
ENST00000652672.2:c.5266-57_5266-51del	ENSP00000498906.2:n.5266-57_5266-51del
ENST00000484087.6:c.1969-57_1969-51del	ENSP00000419481.2:n.1969-57_1969-51del
ENST00000700081.1:n.1290-57_1290-51del
ENST00000700082.1:n.714_720del
ENST00000357654.9:c.5407-57_5407-51del MANE Select	ENSP00000350283.3:n.5407-57_5407-51del
ENST00000471181.7:c.5470-57_5470-51del	ENSP00000418960.2:n.5470-57_5470-51del
ENST00000644379.1:c.1794-57_1794-51del
ENST00000352993.7:c.1981-57_1981-51del	ENSP00000312236.5:n.1981-57_1981-51del
ENST00000357654.7:c.5407-57_5407-51del	ENSP00000350283.3:n.5407-57_5407-51del
ENST00000461221.5:c.*5190-57_*5190-51del	ENSP00000418548.1:n.*5190-57_*5190-51del
ENST00000468300.5:c.2021-57_2021-51del	ENSP00000417148.1:n.2021-57_2021-51del
ENST00000471181.6:c.5470-57_5470-51del	ENSP00000418960.2:n.5470-57_5470-51del
ENST00000491747.6:c.2095-57_2095-51del	ENSP00000420705.2:n.2095-57_2095-51del
ENST00000493795.5:c.5266-57_5266-51del	ENSP00000418775.1:n.5266-57_5266-51del
ENST00000586385.5:c.337-57_337-51del	ENSP00000465818.1:n.337-57_337-51del
ENST00000591534.5:c.880-57_880-51del	ENSP00000467329.1:n.880-57_880-51del
ENST00000591849.5:c.106-57_106-51del	ENSP00000465347.1:n.106-57_106-51del
NM_007294.3:c.5407-57_5407-51del , LRG_292t1:c.5407-57_5407-51del	NP_009225.1:n.5407-57_5407-51del
NM_007297.3:c.5266-57_5266-51del	NP_009228.2:n.5266-57_5266-51del
NM_007298.3:c.2095-57_2095-51del	NP_009229.2:n.2095-57_2095-51del
NM_007299.3:c.2021-57_2021-51del	NP_009230.2:n.2021-57_2021-51del
NM_007300.3:c.5470-57_5470-51del	NP_009231.2:n.5470-57_5470-51del
NR_027676.1:n.5543-57_5543-51del
NM_007294.4:c.5407-57_5407-51del MANE Select	NP_009225.1:n.5407-57_5407-51del
NM_007297.4:c.5266-57_5266-51del	NP_009228.2:n.5266-57_5266-51del
NM_007299.4:c.2021-57_2021-51del	NP_009230.2:n.2021-57_2021-51del
NM_007300.4:c.5470-57_5470-51del	NP_009231.2:n.5470-57_5470-51del
NR_027676.2:n.5584-57_5584-51del