Canonical Allele Identifier: CA2580611077

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43104102_43106653del , CM000679.2:g.43104102_43106653del	GRCh38
NC_000017.10:g.41256119_41258670del , CM000679.1:g.41256119_41258670del	GRCh37
NC_000017.9:g.38509645_38512196del	NCBI36
NG_005905.2:g.111331_113882del , LRG_292:g.111331_113882del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.199-120_505+20del
ENST00000461574.2:c.135-120_441+20del
ENST00000470026.6:c.135-120_441+20del
ENST00000473961.6:c.135-120_441+20del
ENST00000476777.6:c.135-120_441+20del
ENST00000477152.6:c.135-1697_363+20del
ENST00000478531.6:c.135-120_441+20del
ENST00000489037.2:c.135-1697_363+20del
ENST00000493919.6:c.-7-120_300+20del
ENST00000494123.6:c.135-120_441+20del
ENST00000497488.2:c.-218-11793_-218-9242del	ENSP00000418986.2:n.-218-11793_-218-9242d...
ENST00000618469.2:c.135-120_441+20del
ENST00000634433.2:c.135-120_441+20del
ENST00000644379.2:c.135-120_441+20del
ENST00000644555.2:c.-7-120_300+20del
ENST00000652672.2:c.-7-120_300+20del
ENST00000484087.6:c.135-120_441+20del
ENST00000700182.1:c.135-1697_363+20del
ENST00000700183.1:c.*71-120_*355+20del
ENST00000700184.1:n.378-120_684+20del
ENST00000357654.9:c.135-120_441+20del
ENST00000471181.7:c.135-120_441+20del
ENST00000642945.1:c.*9-120_*315+20del
ENST00000652672.1:c.-7-120_300+20del
ENST00000352993.7:c.135-120_441+20del
ENST00000354071.7:c.135-120_441+20del
ENST00000357654.7:c.135-120_441+20del
ENST00000461221.5:c.135-120_*227+20del
ENST00000461798.5:c.135-120_*227+20del
ENST00000468300.5:c.135-120_441+20del
ENST00000470026.5:c.135-120_441+20del
ENST00000471181.6:c.135-120_441+20del
ENST00000476777.5:c.135-120_441+20del
ENST00000477152.5:c.135-1697_363+20del
ENST00000478531.5:c.135-120_441+20del
ENST00000491747.6:c.135-120_441+20del
ENST00000492859.5:c.*71-120_*377+20del
ENST00000493795.5:c.-7-120_300+20del
ENST00000493919.5:c.-7-120_300+20del
ENST00000494123.5:c.135-120_441+20del
ENST00000497488.1:c.-218-11793_-218-9242del	ENSP00000418986.1:n.-218-11793_-218-9242d...
ENST00000586385.5:c.4+18529_4+21080del	ENSP00000465818.1:n.4+18529_4+21080del
ENST00000591534.5:c.-44+18618_-44+21169del	ENSP00000467329.1:n.-44+18618_-44+21169de...
ENST00000591849.5:c.-99+18618_-99+21169del	ENSP00000465347.1:n.-99+18618_-99+21169de...
ENST00000634433.1:c.135-120_441+20del
NM_007294.3:c.135-120_441+20del , LRG_292t1:c.135-120_441+20del
NM_007297.3:c.-7-120_300+20del
NM_007298.3:c.135-120_441+20del
NM_007299.3:c.135-120_441+20del
NM_007300.3:c.135-120_441+20del
NR_027676.1:n.296-120_580+20del
NM_007294.4:c.135-120_441+20del
NM_007297.4:c.-7-120_300+20del
NM_007299.4:c.135-120_441+20del
NM_007300.4:c.135-120_441+20del
NR_027676.2:n.337-120_621+20del