Canonical Allele Identifier: CA658798838
Community Standard Title: NC_000017.11:g.43071237_43071239del
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071237_43071239del , CM000679.2:g.43071237_43071239del GRCh38
NC_000017.10:g.41223254_41223256del , CM000679.1:g.41223254_41223256del GRCh37
NC_000017.9:g.38476780_38476782del NCBI36
NG_005905.2:g.146746_146748del , LRG_292:g.146746_146748del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.3:c.4676_4678del , LRG_292t1:c.4676_4678del
NM_007294.4:c.4676_4678del
NM_007297.3:c.4535_4537del
NM_007297.4:c.4535_4537del
NM_007298.3:c.1364_1366del
NM_007299.3:c.1364_1366del
NM_007299.4:c.1364_1366del
NM_007300.3:c.4739_4741del
NM_007300.4:c.4739_4741del
NR_027676.1:n.4812_4814del
NR_027676.2:n.4853_4855del
ENST00000352993.7:c.1250_1252del
ENST00000357654.7:c.4676_4678del
ENST00000357654.9:c.4676_4678del
ENST00000461221.5:c.*4459_*4461del
ENST00000461574.2:c.4673_4675del
ENST00000468300.5:c.1364_1366del
ENST00000470026.6:c.4676_4678del
ENST00000471181.6:c.4739_4741del
ENST00000471181.7:c.4739_4741del
ENST00000473961.6:c.4550_4552del
ENST00000476777.6:c.4670_4672del
ENST00000477152.6:c.4598_4600del
ENST00000478531.5:c.1364_1366del
ENST00000478531.6:c.1364_1366del
ENST00000484087.5:c.989_991del
ENST00000484087.6:c.1238_1240del
ENST00000489037.2:c.4598_4600del
ENST00000491747.6:c.1364_1366del
ENST00000493795.5:c.4535_4537del
ENST00000493919.5:c.1226_1228del
ENST00000493919.6:c.1226_1228del
ENST00000494123.6:c.4676_4678del
ENST00000497488.2:c.3788_3790del
ENST00000586385.5:c.5-7287_5-7285del ENSP00000465818.1:n.5-7287_5-7285del
ENST00000591534.5:c.149_151del
ENST00000591849.5:c.-98-21048_-98-21046del ENSP00000465347.1:n.-98-21048_-98-21046del
ENST00000618469.2:c.4676_4678del
ENST00000634433.2:c.4553_4555del
ENST00000644379.1:c.1063_1065del
ENST00000644379.2:c.4742_4744del
ENST00000644555.2:c.1226_1228del
ENST00000652672.2:c.4535_4537del
ENST00000700182.1:c.1283_1285del