Canonical Allele Identifier: CA16043345

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 373843
• ClinVar RCV Id: RCV000412747
• MyVariant Identifiers: chr17:g.41208399_41212722del (hg19) ; chr17:g.43056382_43060705del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43056382_43060705del , CM000679.2:g.43056382_43060705del	GRCh38
NC_000017.10:g.41208399_41212722del , CM000679.1:g.41208399_41212722del	GRCh37
NC_000017.9:g.38461925_38466248del	NCBI36
NG_005905.2:g.157279_161602del , LRG_292:g.157279_161602del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5190+2628_5274+670del
ENST00000470026.6:c.5193+2628_5277+670del
ENST00000473961.6:c.5067+2628_5151+670del
ENST00000476777.6:c.5187+2628_5271+670del
ENST00000477152.6:c.5115+2628_5199+670del
ENST00000478531.6:c.1881+2628_1965+670del
ENST00000489037.2:c.5115+2628_5199+670del
ENST00000493919.6:c.1743+2628_1827+670del
ENST00000494123.6:c.5193+2628_5277+670del
ENST00000497488.2:c.4305+2628_4389+670del
ENST00000618469.2:c.5193+2628_5277+670del
ENST00000634433.2:c.5070+2628_5154+670del
ENST00000644379.2:c.5259+2628_5343+670del
ENST00000644555.2:c.1743+2628_1827+670del
ENST00000652672.2:c.5052+2628_5136+670del
ENST00000484087.6:c.1755+2628_1839+670del
ENST00000357654.9:c.5193+2628_5277+670del
ENST00000471181.7:c.5256+2628_5340+670del
ENST00000644379.1:c.1580+2628_1664+670del
ENST00000352993.7:c.1767+2628_1851+670del
ENST00000357654.7:c.5193+2628_5277+670del
ENST00000461221.5:c.*4976+2628_*5060+670del
ENST00000468300.5:c.1881+2628_1965+670del
ENST00000471181.6:c.5256+2628_5340+670del
ENST00000491747.6:c.1881+2628_1965+670del
ENST00000493795.5:c.5052+2628_5136+670del
ENST00000586385.5:c.123+2628_207+670del
ENST00000591534.5:c.666+2628_750+670del
ENST00000591849.5:c.-98-10515_-98-6192del	ENSP00000465347.1:n.-98-10515_-98-6192del...
NM_007294.3:c.5193+2628_5277+670del , LRG_292t1:c.5193+2628_5277+670del
NM_007297.3:c.5052+2628_5136+670del
NM_007298.3:c.1881+2628_1965+670del
NM_007299.3:c.1881+2628_1965+670del
NM_007300.3:c.5256+2628_5340+670del
NR_027676.1:n.5329+2628_5413+670del
NM_007294.4:c.5193+2628_5277+670del
NM_007297.4:c.5052+2628_5136+670del
NM_007299.4:c.1881+2628_1965+670del
NM_007300.4:c.5256+2628_5340+670del
NR_027676.2:n.5370+2628_5454+670del