Canonical Allele Identifier: CA164592

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 141142
• ClinVar RCV Id: RCV000129518
• dbSNP Id: rs587781526
• MyVariant Identifiers: chr17:g.41215387_41215406delinsTATT (hg19) ; chr17:g.43063370_43063389delinsTATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063370_43063389delinsTATT , CM000679.2:g.43063370_43063389delinsTATT	GRCh38
NC_000017.10:g.41215387_41215406delinsTATT , CM000679.1:g.41215387_41215406delinsTATT	GRCh37
NC_000017.9:g.38468913_38468932delinsTATT	NCBI36
NG_005905.2:g.154595_154614delinsAATA , LRG_292:g.154595_154614delinsAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5150-16_5153delinsAATA
ENST00000470026.6:c.5153-16_5156delinsAATA
ENST00000473961.6:c.5027-16_5030delinsAATA
ENST00000476777.6:c.5147-16_5150delinsAATA
ENST00000477152.6:c.5075-16_5078delinsAATA
ENST00000478531.6:c.1841-16_1844delinsAATA
ENST00000489037.2:c.5075-16_5078delinsAATA
ENST00000493919.6:c.1703-16_1706delinsAATA
ENST00000494123.6:c.5153-16_5156delinsAATA
ENST00000497488.2:c.4265-16_4268delinsAATA
ENST00000618469.2:c.5153-16_5156delinsAATA
ENST00000634433.2:c.5030-16_5033delinsAATA
ENST00000644379.2:c.5219-16_5222delinsAATA
ENST00000644555.2:c.1703-16_1706delinsAATA
ENST00000652672.2:c.5012-16_5015delinsAATA
ENST00000484087.6:c.1715-16_1718delinsAATA
ENST00000357654.9:c.5153-16_5156delinsAATA
ENST00000471181.7:c.5216-16_5219delinsAATA
ENST00000644379.1:c.1540-16_1543delinsAATA
ENST00000352993.7:c.1727-16_1730delinsAATA
ENST00000357654.7:c.5153-16_5156delinsAATA
ENST00000461221.5:c.*4936-16_*4939delinsAATA
ENST00000468300.5:c.1841-16_1844delinsAATA
ENST00000471181.6:c.5216-16_5219delinsAATA
ENST00000478531.5:c.1841-16_1844delinsAATA
ENST00000484087.5:c.1466-16_1469delinsAATA
ENST00000491747.6:c.1841-16_1844delinsAATA
ENST00000493795.5:c.5012-16_5015delinsAATA
ENST00000493919.5:c.1703-16_1706delinsAATA
ENST00000586385.5:c.83-16_86delinsAATA
ENST00000591534.5:c.626-16_629delinsAATA
ENST00000591849.5:c.-98-13199_-98-13180delinsAATA	ENSP00000465347.1:n.-98-13199_-98-13180delinsAATA
NM_007294.3:c.5153-16_5156delinsAATA , LRG_292t1:c.5153-16_5156delinsAATA
NM_007297.3:c.5012-16_5015delinsAATA
NM_007298.3:c.1841-16_1844delinsAATA
NM_007299.3:c.1841-16_1844delinsAATA
NM_007300.3:c.5216-16_5219delinsAATA
NR_027676.1:n.5289-16_5292delinsAATA
NM_007294.4:c.5153-16_5156delinsAATA
NM_007297.4:c.5012-16_5015delinsAATA
NM_007299.4:c.1841-16_1844delinsAATA
NM_007300.4:c.5216-16_5219delinsAATA
NR_027676.2:n.5330-16_5333delinsAATA