Canonical Allele Identifier: CA2850446946
Community Standard Title: NC_000017.11:g.43063335_43071240del
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063335_43071240del , CM000679.2:g.43063335_43071240del GRCh38
NC_000017.10:g.41215352_41223257del , CM000679.1:g.41215352_41223257del GRCh37
NC_000017.9:g.38468878_38476783del NCBI36
NG_005905.2:g.146746_154651del , LRG_292:g.146746_154651del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.3:c.4676_5193del , LRG_292t1:c.4676_5193del
NM_007294.4:c.4676_5193del
NM_007297.3:c.4535_5052del
NM_007297.4:c.4535_5052del
NM_007298.3:c.1364_1881del
NM_007299.3:c.1364_1881del
NM_007299.4:c.1364_1881del
NM_007300.3:c.4739_5256del
NM_007300.4:c.4739_5256del
NR_027676.1:n.4812_5329del
NR_027676.2:n.4853_5370del
ENST00000352993.7:c.1250_1767del
ENST00000357654.7:c.4676_5193del
ENST00000357654.9:c.4676_5193del
ENST00000461221.5:c.*4459_*4976del
ENST00000461574.2:c.4673_5190del
ENST00000468300.5:c.1364_1881del
ENST00000470026.6:c.4676_5193del
ENST00000471181.6:c.4739_5256del
ENST00000471181.7:c.4739_5256del
ENST00000473961.6:c.4550_5067del
ENST00000476777.6:c.4670_5187del
ENST00000477152.6:c.4598_5115del
ENST00000478531.6:c.1364_1881del
ENST00000484087.6:c.1238_1755del
ENST00000489037.2:c.4598_5115del
ENST00000491747.6:c.1364_1881del
ENST00000493795.5:c.4535_5052del
ENST00000493919.6:c.1226_1743del
ENST00000494123.6:c.4676_5193del
ENST00000497488.2:c.3788_4305del
ENST00000586385.5:c.5-7287_123del
ENST00000591534.5:c.149_666del
ENST00000591849.5:c.-98-21048_-98-13143del ENSP00000465347.1:n.-98-21048_-98-13143del
ENST00000618469.2:c.4676_5193del
ENST00000634433.2:c.4553_5070del
ENST00000644379.1:c.1063_1580del
ENST00000644379.2:c.4742_5259del
ENST00000644555.2:c.1226_1743del
ENST00000652672.2:c.4535_5052del