Canonical Allele Identifier: CA2837995523

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090942_43097288del , CM000679.2:g.43090942_43097288del	GRCh38
NC_000017.10:g.41242959_41249305del , CM000679.1:g.41242959_41249305del	GRCh37
NC_000017.9:g.38496485_38502831del	NCBI36
NG_005905.2:g.120697_127043del , LRG_292:g.120697_127043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.550_4185+3del
ENST00000470026.6:c.550_4185+3del
ENST00000473961.6:c.545-2427_4059+3del
ENST00000476777.6:c.547_4182+3del
ENST00000477152.6:c.472_4107+3del
ENST00000478531.6:c.547_873+3del
ENST00000489037.2:c.472_4107+3del
ENST00000493919.6:c.409_735+3del
ENST00000494123.6:c.550_4185+3del
ENST00000497488.2:c.-218-2427_3297+3del
ENST00000618469.2:c.550_4185+3del
ENST00000634433.2:c.548-2427_4062+3del
ENST00000644379.2:c.550_4185+3del
ENST00000644555.2:c.409_735+3del
ENST00000652672.2:c.409_4044+3del
ENST00000484087.6:c.548-2427_753+3del
ENST00000700182.1:c.469_795+3del
ENST00000357654.9:c.550_4185+3del
ENST00000471181.7:c.550_4185+3del
ENST00000352993.7:c.550_759+3del
ENST00000357654.7:c.550_4185+3del
ENST00000461221.5:c.*333_*3968+3del
ENST00000468300.5:c.550_876+3del
ENST00000471181.6:c.550_4185+3del
ENST00000478531.5:c.547_873+3del
ENST00000484087.5:c.293-2427_498+3del
ENST00000487825.5:c.296-2427_501+3del
ENST00000491747.6:c.550_876+3del
ENST00000493795.5:c.409_4044+3del
ENST00000493919.5:c.409_735+3del
ENST00000586385.5:c.4+27895_5-26990del	ENSP00000465818.1:n.4+27895_5-26990del
ENST00000591534.5:c.-43-22766_-43-16420del	ENSP00000467329.1:n.-43-22766_-43-16420del
ENST00000591849.5:c.-99+27984_-99+34330del	ENSP00000465347.1:n.-99+27984_-99+34330del
NM_007294.3:c.550_4185+3del , LRG_292t1:c.550_4185+3del
NM_007297.3:c.409_4044+3del
NM_007298.3:c.550_876+3del
NM_007299.3:c.550_876+3del
NM_007300.3:c.550_4185+3del
NR_027676.1:n.686_4321+3del
NM_007294.4:c.550_4185+3del
NM_007297.4:c.409_4044+3del
NM_007299.4:c.550_876+3del
NM_007300.4:c.550_4185+3del
NR_027676.2:n.727_4362+3del