Canonical Allele Identifier: CA658684101
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 491192
ClinVar RCV Id: RCV000582183
dbSNP Id: rs1555599292
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43115780_43115784delinsTCAAGGT , CM000679.2:g.43115780_43115784delinsTCAAGGT GRCh38
NC_000017.10:g.41267797_41267801delinsTCAAGGT , CM000679.1:g.41267797_41267801delinsTCAAGGT GRCh37
NC_000017.9:g.38521323_38521327delinsTCAAGGT NCBI36
NG_005905.2:g.102200_102204delinsACCTTGA , LRG_292:g.102200_102204delinsACCTTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.145-5_145-1delinsACCTTGA
ENST00000461574.2:c.81-5_81-1delinsACCTTGA ENSP00000417241.2:n.81-5_81-1delinsACCTTGA
ENST00000470026.6:c.81-5_81-1delinsACCTTGA ENSP00000419274.2:n.81-5_81-1delinsACCTTGA
ENST00000473961.6:c.81-5_81-1delinsACCTTGA ENSP00000420201.2:n.81-5_81-1delinsACCTTGA
ENST00000476777.6:c.81-5_81-1delinsACCTTGA ENSP00000417554.2:n.81-5_81-1delinsACCTTGA
ENST00000477152.6:c.81-5_81-1delinsACCTTGA ENSP00000419988.2:n.81-5_81-1delinsACCTTGA
ENST00000478531.6:c.81-5_81-1delinsACCTTGA ENSP00000420412.2:n.81-5_81-1delinsACCTTGA
ENST00000489037.2:c.81-5_81-1delinsACCTTGA ENSP00000420781.2:n.81-5_81-1delinsACCTTGA
ENST00000493919.6:c.-8+8233_-8+8237delinsACCTTGA ENSP00000418819.2:n.-8+8233_-8+8237delinsACCTTGA
ENST00000494123.6:c.81-5_81-1delinsACCTTGA ENSP00000419103.2:n.81-5_81-1delinsACCTTGA
ENST00000497488.2:c.-219+9487_-219+9491delinsACCTTGA ENSP00000418986.2:n.-219+9487_-219+9491delinsACCTTGA
ENST00000618469.2:c.81-5_81-1delinsACCTTGA ENSP00000478114.2:n.81-5_81-1delinsACCTTGA
ENST00000634433.2:c.81-5_81-1delinsACCTTGA ENSP00000489431.2:n.81-5_81-1delinsACCTTGA
ENST00000644379.2:c.81-5_81-1delinsACCTTGA ENSP00000496570.2:n.81-5_81-1delinsACCTTGA
ENST00000644555.2:c.-61-5_-61-1delinsACCTTGA ENSP00000494614.2:n.-61-5_-61-1delinsACCTTGA
ENST00000652672.2:c.-61-5_-61-1delinsACCTTGA ENSP00000498906.2:n.-61-5_-61-1delinsACCTTGA
ENST00000484087.6:c.81-5_81-1delinsACCTTGA ENSP00000419481.2:n.81-5_81-1delinsACCTTGA
ENST00000700182.1:c.81-5_81-1delinsACCTTGA ENSP00000514849.1:n.81-5_81-1delinsACCTTGA
ENST00000700183.1:c.81-5_81-1delinsACCTTGA ENSP00000514850.1:n.81-5_81-1delinsACCTTGA
ENST00000700184.1:n.324-5_324-1delinsACCTTGA
ENST00000700185.1:n.200-5_200-1delinsACCTTGA
ENST00000357654.9:c.81-5_81-1delinsACCTTGA MANE Select ENSP00000350283.3:n.81-5_81-1delinsACCTTGA
ENST00000471181.7:c.81-5_81-1delinsACCTTGA ENSP00000418960.2:n.81-5_81-1delinsACCTTGA
ENST00000642945.1:c.81-5_81-1delinsACCTTGA ENSP00000495897.1:n.81-5_81-1delinsACCTTGA
ENST00000644555.1:c.-61-5_-61-1delinsACCTTGA ENSP00000494614.1:n.-61-5_-61-1delinsACCTTGA
ENST00000652672.1:c.-61-5_-61-1delinsACCTTGA ENSP00000498906.1:n.-61-5_-61-1delinsACCTTGA
ENST00000352993.7:c.81-5_81-1delinsACCTTGA ENSP00000312236.5:n.81-5_81-1delinsACCTTGA
ENST00000354071.7:c.81-5_81-1delinsACCTTGA ENSP00000326002.7:n.81-5_81-1delinsACCTTGA
ENST00000357654.7:c.81-5_81-1delinsACCTTGA ENSP00000350283.3:n.81-5_81-1delinsACCTTGA
ENST00000461221.5:c.81-5_81-1delinsACCTTGA ENSP00000418548.1:n.81-5_81-1delinsACCTTGA
ENST00000461798.5:c.81-5_81-1delinsACCTTGA ENSP00000417988.1:n.81-5_81-1delinsACCTTGA
ENST00000468300.5:c.81-5_81-1delinsACCTTGA ENSP00000417148.1:n.81-5_81-1delinsACCTTGA
ENST00000470026.5:c.81-5_81-1delinsACCTTGA ENSP00000419274.1:n.81-5_81-1delinsACCTTGA
ENST00000471181.6:c.81-5_81-1delinsACCTTGA ENSP00000418960.2:n.81-5_81-1delinsACCTTGA
ENST00000476777.5:c.81-5_81-1delinsACCTTGA ENSP00000417554.1:n.81-5_81-1delinsACCTTGA
ENST00000477152.5:c.81-5_81-1delinsACCTTGA ENSP00000419988.1:n.81-5_81-1delinsACCTTGA
ENST00000478531.5:c.81-5_81-1delinsACCTTGA ENSP00000420412.1:n.81-5_81-1delinsACCTTGA
ENST00000489037.1:c.81-5_81-1delinsACCTTGA ENSP00000420781.1:n.81-5_81-1delinsACCTTGA
ENST00000491747.6:c.81-5_81-1delinsACCTTGA ENSP00000420705.2:n.81-5_81-1delinsACCTTGA
ENST00000492859.5:c.81-5_81-1delinsACCTTGA ENSP00000420253.1:n.81-5_81-1delinsACCTTGA
ENST00000493795.5:c.-8+8233_-8+8237delinsACCTTGA ENSP00000418775.1:n.-8+8233_-8+8237delinsACCTTGA
ENST00000493919.5:c.-8+8233_-8+8237delinsACCTTGA ENSP00000418819.1:n.-8+8233_-8+8237delinsACCTTGA
ENST00000494123.5:c.81-5_81-1delinsACCTTGA ENSP00000419103.1:n.81-5_81-1delinsACCTTGA
ENST00000497488.1:c.-219+9487_-219+9491delinsACCTTGA ENSP00000418986.1:n.-219+9487_-219+9491delinsACCTTGA
ENST00000586385.5:c.4+9398_4+9402delinsACCTTGA ENSP00000465818.1:n.4+9398_4+9402delinsACCTTGA
ENST00000591534.5:c.-44+9487_-44+9491delinsACCTTGA ENSP00000467329.1:n.-44+9487_-44+9491delinsACCTTGA
ENST00000591849.5:c.-99+9487_-99+9491delinsACCTTGA ENSP00000465347.1:n.-99+9487_-99+9491delinsACCTTGA
ENST00000634433.1:c.81-5_81-1delinsACCTTGA ENSP00000489431.1:n.81-5_81-1delinsACCTTGA
NM_007294.3:c.81-5_81-1delinsACCTTGA , LRG_292t1:c.81-5_81-1delinsACCTTGA NP_009225.1:n.81-5_81-1delinsACCTTGA
NM_007297.3:c.-8+8233_-8+8237delinsACCTTGA NP_009228.2:n.-8+8233_-8+8237delinsACCTTGA
NM_007298.3:c.81-5_81-1delinsACCTTGA NP_009229.2:n.81-5_81-1delinsACCTTGA
NM_007299.3:c.81-5_81-1delinsACCTTGA NP_009230.2:n.81-5_81-1delinsACCTTGA
NM_007300.3:c.81-5_81-1delinsACCTTGA NP_009231.2:n.81-5_81-1delinsACCTTGA
NR_027676.1:n.242-5_242-1delinsACCTTGA
NM_007294.4:c.81-5_81-1delinsACCTTGA MANE Select NP_009225.1:n.81-5_81-1delinsACCTTGA
NM_007297.4:c.-8+8233_-8+8237delinsACCTTGA NP_009228.2:n.-8+8233_-8+8237delinsACCTTGA
NM_007299.4:c.81-5_81-1delinsACCTTGA NP_009230.2:n.81-5_81-1delinsACCTTGA
NM_007300.4:c.81-5_81-1delinsACCTTGA NP_009231.2:n.81-5_81-1delinsACCTTGA
NR_027676.2:n.283-5_283-1delinsACCTTGA
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