Canonical Allele Identifier: CA10602578

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 267587
• ClinVar RCV Id: RCV000258163
• MyVariant Identifiers: chr17:g.41206863_41215010del (hg19) ; chr17:g.43054846_43062993del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43054853_43063000del , CM000679.2:g.43054853_43063000del	GRCh38
NC_000017.10:g.41206870_41215017del , CM000679.1:g.41206870_41215017del	GRCh37
NC_000017.9:g.38460396_38468543del	NCBI36
NG_005905.2:g.154991_163138del , LRG_292:g.154991_163138del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5190+340_5274+2206del
ENST00000470026.6:c.5193+340_5277+2206del
ENST00000473961.6:c.5067+340_5151+2206del
ENST00000476777.6:c.5187+340_5271+2206del
ENST00000477152.6:c.5115+340_5199+2206del
ENST00000478531.6:c.1881+340_1965+2206del
ENST00000489037.2:c.5115+340_5199+2206del
ENST00000493919.6:c.1743+340_1827+2206del
ENST00000494123.6:c.5193+340_5277+2206del
ENST00000497488.2:c.4305+340_4389+2206del
ENST00000618469.2:c.5193+340_5277+2206del
ENST00000634433.2:c.5070+340_5154+2206del
ENST00000644379.2:c.5259+340_5343+2206del
ENST00000644555.2:c.1743+340_1827+2206del
ENST00000652672.2:c.5052+340_5136+2206del
ENST00000484087.6:c.1755+340_1839+2206del
ENST00000357654.9:c.5193+340_5277+2206del
ENST00000471181.7:c.5256+340_5340+2206del
ENST00000644379.1:c.1580+340_1664+2206del
ENST00000352993.7:c.1767+340_1851+2206del
ENST00000357654.7:c.5193+340_5277+2206del
ENST00000461221.5:c.*4976+340_*5060+2206del
ENST00000468300.5:c.1881+340_1965+2206del
ENST00000471181.6:c.5256+340_5340+2206del
ENST00000491747.6:c.1881+340_1965+2206del
ENST00000493795.5:c.5052+340_5136+2206del
ENST00000586385.5:c.123+340_207+2206del
ENST00000591534.5:c.666+340_750+2206del
ENST00000591849.5:c.-98-12803_-98-4656del	ENSP00000465347.1:n.-98-12803_-98-4656del...
NM_007294.3:c.5193+340_5277+2206del , LRG_292t1:c.5193+340_5277+2206del
NM_007297.3:c.5052+340_5136+2206del
NM_007298.3:c.1881+340_1965+2206del
NM_007299.3:c.1881+340_1965+2206del
NM_007300.3:c.5256+340_5340+2206del
NR_027676.1:n.5329+340_5413+2206del
NM_007294.4:c.5193+340_5277+2206del
NM_007297.4:c.5052+340_5136+2206del
NM_007299.4:c.1881+340_1965+2206del
NM_007300.4:c.5256+340_5340+2206del
NR_027676.2:n.5370+340_5454+2206del