Canonical Allele Identifier: CA16043344

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 373846
• ClinVar RCV Id: RCV000412839
• MyVariant Identifiers: chr17:g.41205891_41209090del (hg19) ; chr17:g.43053874_43057073del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43053874_43057073del , CM000679.2:g.43053874_43057073del	GRCh38
NC_000017.10:g.41205891_41209090del , CM000679.1:g.41205891_41209090del	GRCh37
NC_000017.9:g.38459417_38462616del	NCBI36
NG_005905.2:g.160911_164110del , LRG_292:g.160911_164110del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5253_5275-2757del
ENST00000470026.6:c.5256_5278-2757del
ENST00000473961.6:c.5130_5152-2757del
ENST00000476777.6:c.5250_5272-2757del
ENST00000477152.6:c.5178_5200-2757del
ENST00000478531.6:c.1944_1966-2757del
ENST00000489037.2:c.5178_5200-2757del
ENST00000493919.6:c.1806_1828-2757del
ENST00000494123.6:c.5256_5278-2757del
ENST00000497488.2:c.4368_4390-2757del
ENST00000618469.2:c.5256_5278-2757del
ENST00000634433.2:c.5133_5155-2757del
ENST00000644379.2:c.5322_5344-2757del
ENST00000644555.2:c.1806_1828-2757del
ENST00000652672.2:c.5115_5137-2757del
ENST00000484087.6:c.1818_1840-2757del
ENST00000357654.9:c.5256_5278-2757del
ENST00000471181.7:c.5319_5341-2757del
ENST00000644379.1:c.1643_1665-2757del
ENST00000352993.7:c.1830_1852-2757del
ENST00000357654.7:c.5256_5278-2757del
ENST00000461221.5:c.*5039_*5061-2757del
ENST00000468300.5:c.1944_1966-2757del
ENST00000471181.6:c.5319_5341-2757del
ENST00000491747.6:c.1944_1966-2757del
ENST00000493795.5:c.5115_5137-2757del
ENST00000586385.5:c.186_208-2757del
ENST00000591534.5:c.729_751-2757del
ENST00000591849.5:c.-98-6883_-98-3684del	ENSP00000465347.1:n.-98-6883_-98-3684del
NM_007294.3:c.5256_5278-2757del , LRG_292t1:c.5256_5278-2757del
NM_007297.3:c.5115_5137-2757del
NM_007298.3:c.1944_1966-2757del
NM_007299.3:c.1944_1966-2757del
NM_007300.3:c.5319_5341-2757del
NR_027676.1:n.5392_5414-2757del
NM_007294.4:c.5256_5278-2757del
NM_007297.4:c.5115_5137-2757del
NM_007299.4:c.1944_1966-2757del
NM_007300.4:c.5319_5341-2757del
NR_027676.2:n.5433_5455-2757del