Canonical Allele Identifier: CA2260781628
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43090943_43090945delinsCCT , CM000679.2:g.43090943_43090945delinsCCT GRCh38
NC_000017.10:g.41242960_41242962delinsCCT , CM000679.1:g.41242960_41242962delinsCCT GRCh37
NC_000017.9:g.38496486_38496488delinsCCT NCBI36
NG_005905.2:g.127039_127041delinsAGG , LRG_292:g.127039_127041delinsAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4184_4185+1delinsAGG
ENST00000470026.6:c.4184_4185+1delinsAGG
ENST00000473961.6:c.4058_4059+1delinsAGG
ENST00000476777.6:c.4181_4182+1delinsAGG
ENST00000477152.6:c.4106_4107+1delinsAGG
ENST00000478531.6:c.872_873+1delinsAGG
ENST00000489037.2:c.4106_4107+1delinsAGG
ENST00000493919.6:c.734_735+1delinsAGG
ENST00000494123.6:c.4184_4185+1delinsAGG
ENST00000497488.2:c.3296_3297+1delinsAGG
ENST00000618469.2:c.4184_4185+1delinsAGG
ENST00000634433.2:c.4061_4062+1delinsAGG
ENST00000644379.2:c.4184_4185+1delinsAGG
ENST00000644555.2:c.734_735+1delinsAGG
ENST00000652672.2:c.4043_4044+1delinsAGG
ENST00000484087.6:c.752_753+1delinsAGG
ENST00000700182.1:c.794_795+1delinsAGG
ENST00000357654.9:c.4184_4185+1delinsAGG
ENST00000471181.7:c.4184_4185+1delinsAGG
ENST00000644379.1:c.505_506+1delinsAGG
ENST00000352993.7:c.758_759+1delinsAGG
ENST00000357654.7:c.4184_4185+1delinsAGG
ENST00000461221.5:c.*3967_*3968+1delinsAGG
ENST00000461574.1:c.478_479+1delinsAGG
ENST00000468300.5:c.875_876+1delinsAGG
ENST00000471181.6:c.4184_4185+1delinsAGG
ENST00000478531.5:c.872_873+1delinsAGG
ENST00000484087.5:c.497_498+1delinsAGG
ENST00000487825.5:c.500_501+1delinsAGG
ENST00000491747.6:c.875_876+1delinsAGG
ENST00000493795.5:c.4043_4044+1delinsAGG
ENST00000493919.5:c.734_735+1delinsAGG
ENST00000586385.5:c.5-26994_5-26992delinsAGG ENSP00000465818.1:n.5-26994_5-26992delinsAGG
ENST00000591534.5:c.-43-16424_-43-16422delinsAGG ENSP00000467329.1:n.-43-16424_-43-16422delinsAGG
ENST00000591849.5:c.-99+34326_-99+34328delinsAGG ENSP00000465347.1:n.-99+34326_-99+34328delinsAGG
NM_007294.3:c.4184_4185+1delinsAGG , LRG_292t1:c.4184_4185+1delinsAGG
NM_007297.3:c.4043_4044+1delinsAGG
NM_007298.3:c.875_876+1delinsAGG
NM_007299.3:c.875_876+1delinsAGG
NM_007300.3:c.4184_4185+1delinsAGG
NR_027676.1:n.4320_4321+1delinsAGG
NM_007294.4:c.4184_4185+1delinsAGG
NM_007297.4:c.4043_4044+1delinsAGG
NM_007299.4:c.875_876+1delinsAGG
NM_007300.4:c.4184_4185+1delinsAGG
NR_027676.2:n.4361_4362+1delinsAGG