Canonical Allele Identifier: CA658824706

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548197
• ClinVar RCV Id: RCV000661014
• dbSNP Id: rs1555574384
• MyVariant Identifiers: chr17:g.41197753_41197754insC (hg19) ; chr17:g.43045736_43045737insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045736_43045737insC , CM000679.2:g.43045736_43045737insC	GRCh38
NC_000017.10:g.41197753_41197754insC , CM000679.1:g.41197753_41197754insC	GRCh37
NC_000017.9:g.38451279_38451280insC	NCBI36
NG_005905.2:g.172247_172248insG , LRG_292:g.172247_172248insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5530_5531insG	ENSP00000417241.2:p.Tyr1844Ter
ENST00000470026.6:c.5533_5534insG	ENSP00000419274.2:p.Tyr1845Ter
ENST00000473961.6:c.5407_5408insG	ENSP00000420201.2:p.Tyr1803Ter
ENST00000476777.6:c.5527_5528insG	ENSP00000417554.2:p.Tyr1843Ter
ENST00000477152.6:c.5455_5456insG	ENSP00000419988.2:p.Tyr1819Ter
ENST00000478531.6:c.2221_2222insG	ENSP00000420412.2:p.Tyr741Ter
ENST00000489037.2:c.5455_5456insG	ENSP00000420781.2:p.Tyr1819Ter
ENST00000493919.6:c.2083_2084insG	ENSP00000418819.2:p.Tyr695Ter
ENST00000494123.6:c.5533_5534insG	ENSP00000419103.2:p.Tyr1845Ter
ENST00000497488.2:c.4645_4646insG	ENSP00000418986.2:p.Tyr1549Ter
ENST00000618469.2:c.5533_5534insG	ENSP00000478114.2:p.Tyr1845Ter
ENST00000634433.2:c.5410_5411insG	ENSP00000489431.2:p.Tyr1804Ter
ENST00000644379.2:c.5599_5600insG	ENSP00000496570.2:p.Tyr1867Ter
ENST00000644555.2:c.2083_2084insG	ENSP00000494614.2:p.Tyr695Ter
ENST00000652672.2:c.5392_5393insG	ENSP00000498906.2:p.Tyr1798Ter
ENST00000484087.6:c.2095_2096insG	ENSP00000419481.2:p.Tyr699Ter
ENST00000700081.1:n.1416_1417insG
ENST00000700082.1:n.897_898insG
ENST00000357654.9:c.5533_5534insG MANE Select	ENSP00000350283.3:p.Tyr1845Ter
ENST00000471181.7:c.5596_5597insG	ENSP00000418960.2:p.Tyr1866Ter
ENST00000644379.1:c.1920_1921insG
ENST00000352993.7:c.2107_2108insG	ENSP00000312236.5:p.Tyr703Ter
ENST00000357654.7:c.5533_5534insG	ENSP00000350283.3:p.Tyr1845Ter
ENST00000461221.5:c.*5316_*5317insG	ENSP00000418548.1:n.*5316_*5317insG
ENST00000468300.5:c.*47_*48insG	ENSP00000417148.1:n.*47_*48insG
ENST00000471181.6:c.5596_5597insG	ENSP00000418960.2:p.Tyr1866Ter
ENST00000491747.6:c.2221_2222insG	ENSP00000420705.2:p.Tyr741Ter
ENST00000493795.5:c.5392_5393insG	ENSP00000418775.1:p.Tyr1798Ter
ENST00000586385.5:c.463_464insG	ENSP00000465818.1:p.Tyr155Ter
ENST00000591534.5:c.1006_1007insG	ENSP00000467329.1:p.Tyr336Ter
ENST00000591849.5:c.232_233insG	ENSP00000465347.1:p.Tyr78Ter
NM_007294.3:c.5533_5534insG , LRG_292t1:c.5533_5534insG	NP_009225.1:p.Tyr1845Ter
NM_007297.3:c.5392_5393insG	NP_009228.2:p.Tyr1798Ter
NM_007298.3:c.2221_2222insG	NP_009229.2:p.Tyr741Ter
NM_007299.3:c.*47_*48insG	NP_009230.2:n.*47_*48insG
NM_007300.3:c.5596_5597insG	NP_009231.2:p.Tyr1866Ter
NR_027676.1:n.5669_5670insG
NM_007294.4:c.5533_5534insG MANE Select	NP_009225.1:p.Tyr1845Ter
NM_007297.4:c.5392_5393insG	NP_009228.2:p.Tyr1798Ter
NM_007299.4:c.*47_*48insG	NP_009230.2:n.*47_*48insG
NM_007300.4:c.5596_5597insG	NP_009231.2:p.Tyr1866Ter
NR_027676.2:n.5710_5711insG