Canonical Allele Identifier: CA16043354

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 373842
• ClinVar RCV Id: RCV000414143
• MyVariant Identifiers: chr17:g.41254532_41259756del (hg19) ; chr17:g.43102515_43107739del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43102515_43107739del , CM000679.2:g.43102515_43107739del	GRCh38
NC_000017.10:g.41254532_41259756del , CM000679.1:g.41254532_41259756del	GRCh37
NC_000017.9:g.38508058_38513282del	NCBI36
NG_005905.2:g.110245_115469del , LRG_292:g.110245_115469del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.199-1206_505+1607del
ENST00000461574.2:c.135-1206_441+1607del
ENST00000470026.6:c.135-1206_441+1607del
ENST00000473961.6:c.135-1206_441+1607del
ENST00000476777.6:c.135-1206_441+1607del
ENST00000477152.6:c.135-2783_363+1607del
ENST00000478531.6:c.135-1206_441+1607del
ENST00000489037.2:c.135-2783_363+1607del
ENST00000493919.6:c.-7-1206_300+1607del
ENST00000494123.6:c.135-1206_441+1607del
ENST00000497488.2:c.-218-12879_-218-7655del	ENSP00000418986.2:n.-218-12879_-218-7655d...
ENST00000618469.2:c.135-1206_441+1607del
ENST00000634433.2:c.135-1206_441+1607del
ENST00000644379.2:c.135-1206_441+1607del
ENST00000644555.2:c.-7-1206_300+1607del
ENST00000652672.2:c.-7-1206_300+1607del
ENST00000484087.6:c.135-1206_441+1607del
ENST00000700182.1:c.135-2783_363+1607del
ENST00000700183.1:c.*71-1206_*355+1607del
ENST00000700184.1:n.378-1206_684+1607del
ENST00000357654.9:c.135-1206_441+1607del
ENST00000471181.7:c.135-1206_441+1607del
ENST00000642945.1:c.*9-1206_*315+1607del
ENST00000652672.1:c.-7-1206_300+1607del
ENST00000352993.7:c.135-1206_441+1607del
ENST00000354071.7:c.135-1206_441+1607del
ENST00000357654.7:c.135-1206_441+1607del
ENST00000461221.5:c.135-1206_*227+1607del
ENST00000461798.5:c.135-1206_*227+1607del
ENST00000468300.5:c.135-1206_441+1607del
ENST00000470026.5:c.135-1206_441+1607del
ENST00000471181.6:c.135-1206_441+1607del
ENST00000476777.5:c.135-1206_441+1607del
ENST00000477152.5:c.135-2783_363+1607del
ENST00000478531.5:c.135-1206_441+1607del
ENST00000491747.6:c.135-1206_441+1607del
ENST00000492859.5:c.*71-1206_*377+1607del
ENST00000493795.5:c.-7-1206_300+1607del
ENST00000493919.5:c.-7-1206_300+1607del
ENST00000494123.5:c.135-1206_441+1607del
ENST00000497488.1:c.-218-12879_-218-7655del	ENSP00000418986.1:n.-218-12879_-218-7655d...
ENST00000586385.5:c.4+17443_4+22667del	ENSP00000465818.1:n.4+17443_4+22667del
ENST00000591534.5:c.-44+17532_-44+22756del	ENSP00000467329.1:n.-44+17532_-44+22756de...
ENST00000591849.5:c.-99+17532_-99+22756del	ENSP00000465347.1:n.-99+17532_-99+22756de...
ENST00000634433.1:c.135-1206_441+1607del
NM_007294.3:c.135-1206_441+1607del , LRG_292t1:c.135-1206_441+1607del
NM_007297.3:c.-7-1206_300+1607del
NM_007298.3:c.135-1206_441+1607del
NM_007299.3:c.135-1206_441+1607del
NM_007300.3:c.135-1206_441+1607del
NR_027676.1:n.296-1206_580+1607del
NM_007294.4:c.135-1206_441+1607del
NM_007297.4:c.-7-1206_300+1607del
NM_007299.4:c.135-1206_441+1607del
NM_007300.4:c.135-1206_441+1607del
NR_027676.2:n.337-1206_621+1607del