Canonical Allele Identifier: CA2638060554

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43047798-G-GCAAGACCCTGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047798_43047799insCAAGACCCTGTC , CM000679.2:g.43047798_43047799insCAAGACCCTGTC	GRCh38
NC_000017.10:g.41199815_41199816insCAAGACCCTGTC , CM000679.1:g.41199815_41199816insCAAGACCCTGTC	GRCh37
NC_000017.9:g.38453341_38453342insCAAGACCCTGTC	NCBI36
NG_005905.2:g.170185_170186insGACAGGGTCTTG , LRG_292:g.170185_170186insGACAGGGTCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5404-96_5404-95insGACAGGGTCTTG	ENSP00000417241.2:n.5404-96_5404-95insGACAGGGTCTTG
ENST00000470026.6:c.5407-96_5407-95insGACAGGGTCTTG	ENSP00000419274.2:n.5407-96_5407-95insGACAGGGTCTTG
ENST00000473961.6:c.5281-96_5281-95insGACAGGGTCTTG	ENSP00000420201.2:n.5281-96_5281-95insGACAGGGTCTTG
ENST00000476777.6:c.5401-96_5401-95insGACAGGGTCTTG	ENSP00000417554.2:n.5401-96_5401-95insGACAGGGTCTTG
ENST00000477152.6:c.5329-96_5329-95insGACAGGGTCTTG	ENSP00000419988.2:n.5329-96_5329-95insGACAGGGTCTTG
ENST00000478531.6:c.2095-96_2095-95insGACAGGGTCTTG	ENSP00000420412.2:n.2095-96_2095-95insGACAGGGTCTTG
ENST00000489037.2:c.5329-96_5329-95insGACAGGGTCTTG	ENSP00000420781.2:n.5329-96_5329-95insGACAGGGTCTTG
ENST00000493919.6:c.1957-96_1957-95insGACAGGGTCTTG	ENSP00000418819.2:n.1957-96_1957-95insGACAGGGTCTTG
ENST00000494123.6:c.5407-96_5407-95insGACAGGGTCTTG	ENSP00000419103.2:n.5407-96_5407-95insGACAGGGTCTTG
ENST00000497488.2:c.4519-96_4519-95insGACAGGGTCTTG	ENSP00000418986.2:n.4519-96_4519-95insGACAGGGTCTTG
ENST00000618469.2:c.5407-96_5407-95insGACAGGGTCTTG	ENSP00000478114.2:n.5407-96_5407-95insGACAGGGTCTTG
ENST00000634433.2:c.5284-96_5284-95insGACAGGGTCTTG	ENSP00000489431.2:n.5284-96_5284-95insGACAGGGTCTTG
ENST00000644379.2:c.5473-96_5473-95insGACAGGGTCTTG	ENSP00000496570.2:n.5473-96_5473-95insGACAGGGTCTTG
ENST00000644555.2:c.1957-96_1957-95insGACAGGGTCTTG	ENSP00000494614.2:n.1957-96_1957-95insGACAGGGTCTTG
ENST00000652672.2:c.5266-96_5266-95insGACAGGGTCTTG	ENSP00000498906.2:n.5266-96_5266-95insGACAGGGTCTTG
ENST00000484087.6:c.1969-96_1969-95insGACAGGGTCTTG	ENSP00000419481.2:n.1969-96_1969-95insGACAGGGTCTTG
ENST00000700081.1:n.1290-96_1290-95insGACAGGGTCTTG
ENST00000700082.1:n.675_676insGACAGGGTCTTG
ENST00000357654.9:c.5407-96_5407-95insGACAGGGTCTTG MANE Select	ENSP00000350283.3:n.5407-96_5407-95insGACAGGGTCTTG
ENST00000471181.7:c.5470-96_5470-95insGACAGGGTCTTG	ENSP00000418960.2:n.5470-96_5470-95insGACAGGGTCTTG
ENST00000644379.1:c.1794-96_1794-95insGACAGGGTCTTG
ENST00000352993.7:c.1981-96_1981-95insGACAGGGTCTTG	ENSP00000312236.5:n.1981-96_1981-95insGACAGGGTCTTG
ENST00000357654.7:c.5407-96_5407-95insGACAGGGTCTTG	ENSP00000350283.3:n.5407-96_5407-95insGACAGGGTCTTG
ENST00000461221.5:c.*5190-96_*5190-95insGACAGGGTCTTG	ENSP00000418548.1:n.*5190-96_*5190-95insGACAGGGTCTTG
ENST00000468300.5:c.2021-96_2021-95insGACAGGGTCTTG	ENSP00000417148.1:n.2021-96_2021-95insGACAGGGTCTTG
ENST00000471181.6:c.5470-96_5470-95insGACAGGGTCTTG	ENSP00000418960.2:n.5470-96_5470-95insGACAGGGTCTTG
ENST00000491747.6:c.2095-96_2095-95insGACAGGGTCTTG	ENSP00000420705.2:n.2095-96_2095-95insGACAGGGTCTTG
ENST00000493795.5:c.5266-96_5266-95insGACAGGGTCTTG	ENSP00000418775.1:n.5266-96_5266-95insGACAGGGTCTTG
ENST00000586385.5:c.337-96_337-95insGACAGGGTCTTG	ENSP00000465818.1:n.337-96_337-95insGACAGGGTCTTG
ENST00000591534.5:c.880-96_880-95insGACAGGGTCTTG	ENSP00000467329.1:n.880-96_880-95insGACAGGGTCTTG
ENST00000591849.5:c.106-96_106-95insGACAGGGTCTTG	ENSP00000465347.1:n.106-96_106-95insGACAGGGTCTTG
NM_007294.3:c.5407-96_5407-95insGACAGGGTCTTG , LRG_292t1:c.5407-96_5407-95insGACAGGGTCTTG	NP_009225.1:n.5407-96_5407-95insGACAGGGTCTTG
NM_007297.3:c.5266-96_5266-95insGACAGGGTCTTG	NP_009228.2:n.5266-96_5266-95insGACAGGGTCTTG
NM_007298.3:c.2095-96_2095-95insGACAGGGTCTTG	NP_009229.2:n.2095-96_2095-95insGACAGGGTCTTG
NM_007299.3:c.2021-96_2021-95insGACAGGGTCTTG	NP_009230.2:n.2021-96_2021-95insGACAGGGTCTTG
NM_007300.3:c.5470-96_5470-95insGACAGGGTCTTG	NP_009231.2:n.5470-96_5470-95insGACAGGGTCTTG
NR_027676.1:n.5543-96_5543-95insGACAGGGTCTTG
NM_007294.4:c.5407-96_5407-95insGACAGGGTCTTG MANE Select	NP_009225.1:n.5407-96_5407-95insGACAGGGTCTTG
NM_007297.4:c.5266-96_5266-95insGACAGGGTCTTG	NP_009228.2:n.5266-96_5266-95insGACAGGGTCTTG
NM_007299.4:c.2021-96_2021-95insGACAGGGTCTTG	NP_009230.2:n.2021-96_2021-95insGACAGGGTCTTG
NM_007300.4:c.5470-96_5470-95insGACAGGGTCTTG	NP_009231.2:n.5470-96_5470-95insGACAGGGTCTTG
NR_027676.2:n.5584-96_5584-95insGACAGGGTCTTG