Canonical Allele Identifier: CA2581463402
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43074333_43082577del , CM000679.2:g.43074333_43082577del GRCh38
NC_000017.10:g.41226350_41234594del , CM000679.1:g.41226350_41234594del GRCh37
NC_000017.9:g.38479876_38488120del NCBI36
NG_005905.2:g.135409_143653del , LRG_292:g.135409_143653del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4186_4672del
ENST00000470026.6:c.4186_4675del
ENST00000473961.6:c.4060_4549del
ENST00000476777.6:c.4183-3_4669del
ENST00000477152.6:c.4108_4597del
ENST00000478531.6:c.874_1363del
ENST00000489037.2:c.4108_4597del
ENST00000493919.6:c.736_1225del
ENST00000494123.6:c.4186_4675del
ENST00000497488.2:c.3298_3787del
ENST00000618469.2:c.4186_4675del
ENST00000634433.2:c.4063_4552del
ENST00000644379.2:c.4186_4741del
ENST00000644555.2:c.736_1225del
ENST00000652672.2:c.4045_4534del
ENST00000484087.6:c.754-3_1237del
ENST00000700182.1:c.796_1282del
ENST00000357654.9:c.4186_4675del
ENST00000471181.7:c.4186_4738del
ENST00000644379.1:c.507_1062del
ENST00000352993.7:c.760_1249del
ENST00000357654.7:c.4186_4675del
ENST00000461221.5:c.*3969_*4458del
ENST00000468300.5:c.877_1363del
ENST00000471181.6:c.4186_4738del
ENST00000478531.5:c.874_1363del
ENST00000484087.5:c.499_988del
ENST00000491747.6:c.877_1363del
ENST00000493795.5:c.4045_4534del
ENST00000493919.5:c.736_1225del
ENST00000586385.5:c.5-18624_5-10380del ENSP00000465818.1:n.5-18624_5-10380del
ENST00000591534.5:c.-43-8054_148del
ENST00000591849.5:c.-98-32385_-98-24141del ENSP00000465347.1:n.-98-32385_-98-24141de...
NM_007294.3:c.4186_4675del , LRG_292t1:c.4186_4675del
NM_007297.3:c.4045_4534del
NM_007298.3:c.877_1363del
NM_007299.3:c.877_1363del
NM_007300.3:c.4186_4738del
NR_027676.1:n.4322_4811del
NM_007294.4:c.4186_4675del
NM_007297.4:c.4045_4534del
NM_007299.4:c.877_1363del
NM_007300.4:c.4186_4738del
NR_027676.2:n.4363_4852del