Canonical Allele Identifier: CA2695202220
Community Standard Title: NC_000017.11:g.43071227_43071263del
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071227_43071263del , CM000679.2:g.43071227_43071263del GRCh38
NC_000017.10:g.41223244_41223280del , CM000679.1:g.41223244_41223280del GRCh37
NC_000017.9:g.38476770_38476806del NCBI36
NG_005905.2:g.146722_146758del , LRG_292:g.146722_146758del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.3:c.4676-24_4688del , LRG_292t1:c.4676-24_4688del
NM_007294.4:c.4676-24_4688del
NM_007297.3:c.4535-24_4547del
NM_007297.4:c.4535-24_4547del
NM_007298.3:c.1364-24_1376del
NM_007299.3:c.1364-24_1376del
NM_007299.4:c.1364-24_1376del
NM_007300.3:c.4739-24_4751del
NM_007300.4:c.4739-24_4751del
NR_027676.1:n.4812-24_4824del
NR_027676.2:n.4853-24_4865del
ENST00000352993.7:c.1250-24_1262del
ENST00000357654.7:c.4676-24_4688del
ENST00000357654.9:c.4676-24_4688del
ENST00000461221.5:c.*4459-24_*4471del
ENST00000461574.2:c.4673-24_4685del
ENST00000468300.5:c.1364-24_1376del
ENST00000470026.6:c.4676-24_4688del
ENST00000471181.6:c.4739-24_4751del
ENST00000471181.7:c.4739-24_4751del
ENST00000473961.6:c.4550-24_4562del
ENST00000476777.6:c.4670-24_4682del
ENST00000477152.6:c.4598-24_4610del
ENST00000478531.5:c.1364-24_1376del
ENST00000478531.6:c.1364-24_1376del
ENST00000484087.5:c.989-24_1001del
ENST00000484087.6:c.1238-24_1250del
ENST00000489037.2:c.4598-24_4610del
ENST00000491747.6:c.1364-24_1376del
ENST00000493795.5:c.4535-24_4547del
ENST00000493919.5:c.1226-24_1238del
ENST00000493919.6:c.1226-24_1238del
ENST00000494123.6:c.4676-24_4688del
ENST00000497488.2:c.3788-24_3800del
ENST00000586385.5:c.5-7311_5-7275del ENSP00000465818.1:n.5-7311_5-7275del
ENST00000591534.5:c.149-24_161del
ENST00000591849.5:c.-98-21072_-98-21036del ENSP00000465347.1:n.-98-21072_-98-21036del
ENST00000618469.2:c.4676-24_4688del
ENST00000634433.2:c.4553-24_4565del
ENST00000644379.1:c.1063-24_1075del
ENST00000644379.2:c.4742-24_4754del
ENST00000644555.2:c.1226-24_1238del
ENST00000652672.2:c.4535-24_4547del
ENST00000700182.1:c.1283-24_1295del