Canonical Allele Identifier: CA2809539165
Gene: BRCA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091419_43091420insCCAAACACACCCAACAC , CM000679.2:g.43091419_43091420insCCAAACACACCCAACAC GRCh38
NC_000017.10:g.41243436_41243437insCCAAACACACCCAACAC , CM000679.1:g.41243436_41243437insCCAAACACACCCAACAC GRCh37
NC_000017.9:g.38496962_38496963insCCAAACACACCCAACAC NCBI36
NG_005905.2:g.126564_126565insGTGTTGGGTGTGTTTGG , LRG_292:g.126564_126565insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4175_4176insGTGTTGGGTGTGTTTGG
ENST00000461574.2:c.4096+15_4096+16insGTGTTGGGTGTGTTTGG ENSP00000417241.2:n.4096+15_4096+16insGTGTTGGGTGTGTTTGG
ENST00000470026.6:c.4096+15_4096+16insGTGTTGGGTGTGTTTGG ENSP00000419274.2:n.4096+15_4096+16insGTGTTGGGTGTGTTTGG
ENST00000473961.6:c.3970+15_3970+16insGTGTTGGGTGTGTTTGG ENSP00000420201.2:n.3970+15_3970+16insGTGTTGGGTGTGTTTGG
ENST00000476777.6:c.4093+15_4093+16insGTGTTGGGTGTGTTTGG ENSP00000417554.2:n.4093+15_4093+16insGTGTTGGGTGTGTTTGG
ENST00000477152.6:c.4018+15_4018+16insGTGTTGGGTGTGTTTGG ENSP00000419988.2:n.4018+15_4018+16insGTGTTGGGTGTGTTTGG
ENST00000478531.6:c.785-388_785-387insGTGTTGGGTGTGTTTGG ENSP00000420412.2:n.785-388_785-387insGTGTTGGGTGTGTTTGG
ENST00000489037.2:c.4018+15_4018+16insGTGTTGGGTGTGTTTGG ENSP00000420781.2:n.4018+15_4018+16insGTGTTGGGTGTGTTTGG
ENST00000493919.6:c.647-388_647-387insGTGTTGGGTGTGTTTGG ENSP00000418819.2:n.647-388_647-387insGTGTTGGGTGTGTTTGG
ENST00000494123.6:c.4096+15_4096+16insGTGTTGGGTGTGTTTGG ENSP00000419103.2:n.4096+15_4096+16insGTGTTGGGTGTGTTTGG
ENST00000497488.2:c.3208+15_3208+16insGTGTTGGGTGTGTTTGG ENSP00000418986.2:n.3208+15_3208+16insGTGTTGGGTGTGTTTGG
ENST00000618469.2:c.4096+15_4096+16insGTGTTGGGTGTGTTTGG ENSP00000478114.2:n.4096+15_4096+16insGTGTTGGGTGTGTTTGG
ENST00000634433.2:c.3973+15_3973+16insGTGTTGGGTGTGTTTGG ENSP00000489431.2:n.3973+15_3973+16insGTGTTGGGTGTGTTTGG
ENST00000644379.2:c.4096+15_4096+16insGTGTTGGGTGTGTTTGG ENSP00000496570.2:n.4096+15_4096+16insGTGTTGGGTGTGTTTGG
ENST00000644555.2:c.647-388_647-387insGTGTTGGGTGTGTTTGG ENSP00000494614.2:n.647-388_647-387insGTGTTGGGTGTGTTTGG
ENST00000652672.2:c.3955+15_3955+16insGTGTTGGGTGTGTTTGG ENSP00000498906.2:n.3955+15_3955+16insGTGTTGGGTGTGTTTGG
ENST00000484087.6:c.665-388_665-387insGTGTTGGGTGTGTTTGG ENSP00000419481.2:n.665-388_665-387insGTGTTGGGTGTGTTTGG
ENST00000700182.1:c.707-388_707-387insGTGTTGGGTGTGTTTGG ENSP00000514849.1:n.707-388_707-387insGTGTTGGGTGTGTTTGG
ENST00000357654.9:c.4096+15_4096+16insGTGTTGGGTGTGTTTGG MANE Select ENSP00000350283.3:n.4096+15_4096+16insGTGTTGGGTGTGTTTGG
ENST00000471181.7:c.4096+15_4096+16insGTGTTGGGTGTGTTTGG ENSP00000418960.2:n.4096+15_4096+16insGTGTTGGGTGTGTTTGG
ENST00000644379.1:c.417+15_417+16insGTGTTGGGTGTGTTTGG
ENST00000352993.7:c.671-388_671-387insGTGTTGGGTGTGTTTGG ENSP00000312236.5:n.671-388_671-387insGTGTTGGGTGTGTTTGG
ENST00000354071.7:c.4111_4112insGTGTTGGGTGTGTTTGG ENSP00000326002.7:p.Phe1371CysfsTer19
ENST00000357654.7:c.4096+15_4096+16insGTGTTGGGTGTGTTTGG ENSP00000350283.3:n.4096+15_4096+16insGTGTTGGGTGTGTTTGG
ENST00000461221.5:c.*3879+15_*3879+16insGTGTTGGGTGTGTTTGG ENSP00000418548.1:n.*3879+15_*3879+16insGTGTTGGGTGTGTTTGG
ENST00000461574.1:c.390+15_390+16insGTGTTGGGTGTGTTTGG
ENST00000468300.5:c.788-388_788-387insGTGTTGGGTGTGTTTGG ENSP00000417148.1:n.788-388_788-387insGTGTTGGGTGTGTTTGG
ENST00000471181.6:c.4096+15_4096+16insGTGTTGGGTGTGTTTGG ENSP00000418960.2:n.4096+15_4096+16insGTGTTGGGTGTGTTTGG
ENST00000478531.5:c.785-388_785-387insGTGTTGGGTGTGTTTGG ENSP00000420412.1:n.785-388_785-387insGTGTTGGGTGTGTTTGG
ENST00000484087.5:c.410-388_410-387insGTGTTGGGTGTGTTTGG ENSP00000419481.1:n.410-388_410-387insGTGTTGGGTGTGTTTGG
ENST00000487825.5:c.413-388_413-387insGTGTTGGGTGTGTTTGG ENSP00000418212.1:n.413-388_413-387insGTGTTGGGTGTGTTTGG
ENST00000491747.6:c.788-388_788-387insGTGTTGGGTGTGTTTGG ENSP00000420705.2:n.788-388_788-387insGTGTTGGGTGTGTTTGG
ENST00000493795.5:c.3955+15_3955+16insGTGTTGGGTGTGTTTGG ENSP00000418775.1:n.3955+15_3955+16insGTGTTGGGTGTGTTTGG
ENST00000493919.5:c.647-388_647-387insGTGTTGGGTGTGTTTGG ENSP00000418819.1:n.647-388_647-387insGTGTTGGGTGTGTTTGG
ENST00000586385.5:c.5-27469_5-27468insGTGTTGGGTGTGTTTGG ENSP00000465818.1:n.5-27469_5-27468insGTGTTGGGTGTGTTTGG
ENST00000591534.5:c.-43-16899_-43-16898insGTGTTGGGTGTGTTTGG ENSP00000467329.1:n.-43-16899_-43-16898insGTGTTGGGTGTGTTTGG
ENST00000591849.5:c.-99+33851_-99+33852insGTGTTGGGTGTGTTTGG ENSP00000465347.1:n.-99+33851_-99+33852insGTGTTGGGTGTGTTTGG
NM_007294.3:c.4096+15_4096+16insGTGTTGGGTGTGTTTGG , LRG_292t1:c.4096+15_4096+16insGTGTTGGGTGTGTTTGG NP_009225.1:n.4096+15_4096+16insGTGTTGGGTGTGTTTGG
NM_007297.3:c.3955+15_3955+16insGTGTTGGGTGTGTTTGG NP_009228.2:n.3955+15_3955+16insGTGTTGGGTGTGTTTGG
NM_007298.3:c.788-388_788-387insGTGTTGGGTGTGTTTGG NP_009229.2:n.788-388_788-387insGTGTTGGGTGTGTTTGG
NM_007299.3:c.788-388_788-387insGTGTTGGGTGTGTTTGG NP_009230.2:n.788-388_788-387insGTGTTGGGTGTGTTTGG
NM_007300.3:c.4096+15_4096+16insGTGTTGGGTGTGTTTGG NP_009231.2:n.4096+15_4096+16insGTGTTGGGTGTGTTTGG
NR_027676.1:n.4232+15_4232+16insGTGTTGGGTGTGTTTGG
NM_007294.4:c.4096+15_4096+16insGTGTTGGGTGTGTTTGG MANE Select NP_009225.1:n.4096+15_4096+16insGTGTTGGGTGTGTTTGG
NM_007297.4:c.3955+15_3955+16insGTGTTGGGTGTGTTTGG NP_009228.2:n.3955+15_3955+16insGTGTTGGGTGTGTTTGG
NM_007299.4:c.788-388_788-387insGTGTTGGGTGTGTTTGG NP_009230.2:n.788-388_788-387insGTGTTGGGTGTGTTTGG
NM_007300.4:c.4096+15_4096+16insGTGTTGGGTGTGTTTGG NP_009231.2:n.4096+15_4096+16insGTGTTGGGTGTGTTTGG
NR_027676.2:n.4273+15_4273+16insGTGTTGGGTGTGTTTGG
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Search 100 bp 3'