Canonical Allele Identifier: CA2638062434

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43091432-TACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTTTCTTCATCATCTGAAACCAATTCCTTGTCACTCAGACCAACTCCCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091433_43091540del , CM000679.2:g.43091433_43091540del	GRCh38
NC_000017.10:g.41243450_41243557del , CM000679.1:g.41243450_41243557del	GRCh37
NC_000017.9:g.38496976_38497083del	NCBI36
NG_005905.2:g.126444_126551del , LRG_292:g.126444_126551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4055_4162del
ENST00000461574.2:c.3991_4096+2del
ENST00000470026.6:c.3991_4096+2del
ENST00000473961.6:c.3865_3970+2del
ENST00000476777.6:c.3988_4093+2del
ENST00000477152.6:c.3913_4018+2del
ENST00000478531.6:c.785-508_785-401del	ENSP00000420412.2:n.785-508_785-401del
ENST00000489037.2:c.3913_4018+2del
ENST00000493919.6:c.647-508_647-401del	ENSP00000418819.2:n.647-508_647-401del
ENST00000494123.6:c.3991_4096+2del
ENST00000497488.2:c.3103_3208+2del
ENST00000618469.2:c.3991_4096+2del
ENST00000634433.2:c.3868_3973+2del
ENST00000644379.2:c.3991_4096+2del
ENST00000644555.2:c.647-508_647-401del	ENSP00000494614.2:n.647-508_647-401del
ENST00000652672.2:c.3850_3955+2del
ENST00000484087.6:c.665-508_665-401del	ENSP00000419481.2:n.665-508_665-401del
ENST00000700182.1:c.707-508_707-401del	ENSP00000514849.1:n.707-508_707-401del
ENST00000357654.9:c.3991_4096+2del
ENST00000471181.7:c.3991_4096+2del
ENST00000644379.1:c.312_417+2del
ENST00000352993.7:c.671-508_671-401del	ENSP00000312236.5:n.671-508_671-401del
ENST00000354071.7:c.3991_4098del	ENSP00000326002.7:p.Gln1331_Gly1366del
ENST00000357654.7:c.3991_4096+2del
ENST00000461221.5:c.*3774_*3879+2del
ENST00000461574.1:c.285_390+2del
ENST00000468300.5:c.788-508_788-401del	ENSP00000417148.1:n.788-508_788-401del
ENST00000471181.6:c.3991_4096+2del
ENST00000478531.5:c.785-508_785-401del	ENSP00000420412.1:n.785-508_785-401del
ENST00000484087.5:c.410-508_410-401del	ENSP00000419481.1:n.410-508_410-401del
ENST00000487825.5:c.413-508_413-401del	ENSP00000418212.1:n.413-508_413-401del
ENST00000491747.6:c.788-508_788-401del	ENSP00000420705.2:n.788-508_788-401del
ENST00000493795.5:c.3850_3955+2del
ENST00000493919.5:c.647-508_647-401del	ENSP00000418819.1:n.647-508_647-401del
ENST00000586385.5:c.5-27589_5-27482del	ENSP00000465818.1:n.5-27589_5-27482del
ENST00000591534.5:c.-43-17019_-43-16912del	ENSP00000467329.1:n.-43-17019_-43-16912del
ENST00000591849.5:c.-99+33731_-99+33838del	ENSP00000465347.1:n.-99+33731_-99+33838del
NM_007294.3:c.3991_4096+2del , LRG_292t1:c.3991_4096+2del
NM_007297.3:c.3850_3955+2del
NM_007298.3:c.788-508_788-401del	NP_009229.2:n.788-508_788-401del
NM_007299.3:c.788-508_788-401del	NP_009230.2:n.788-508_788-401del
NM_007300.3:c.3991_4096+2del
NR_027676.1:n.4127_4232+2del
NM_007294.4:c.3991_4096+2del
NM_007297.4:c.3850_3955+2del
NM_007299.4:c.788-508_788-401del	NP_009230.2:n.788-508_788-401del
NM_007300.4:c.3991_4096+2del
NR_027676.2:n.4168_4273+2del