Canonical Allele Identifier: CA2573054435

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1313497
• ClinVar RCV Id: RCV001763861
• dbSNP Id: rs2153054780

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051068_43051079del , CM000679.2:g.43051068_43051079del	GRCh38
NC_000017.10:g.41203085_41203096del , CM000679.1:g.41203085_41203096del	GRCh37
NC_000017.9:g.38456611_38456622del	NCBI36
NG_005905.2:g.166908_166919del , LRG_292:g.166908_166919del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5316_5327del	ENSP00000417241.2:p.Asn1773_Thr1776del
ENST00000470026.6:c.5319_5330del	ENSP00000419274.2:p.Asn1774_Thr1777del
ENST00000473961.6:c.5193_5204del	ENSP00000420201.2:p.Asn1732_Thr1735del
ENST00000476777.6:c.5313_5324del	ENSP00000417554.2:p.Asn1772_Thr1775del
ENST00000477152.6:c.5241_5252del	ENSP00000419988.2:p.Asn1748_Thr1751del
ENST00000478531.6:c.2007_2018del	ENSP00000420412.2:p.Asn670_Thr673del
ENST00000489037.2:c.5241_5252del	ENSP00000420781.2:p.Asn1748_Thr1751del
ENST00000493919.6:c.1869_1880del	ENSP00000418819.2:p.Asn624_Thr627del
ENST00000494123.6:c.5319_5330del	ENSP00000419103.2:p.Asn1774_Thr1777del
ENST00000497488.2:c.4431_4442del	ENSP00000418986.2:p.Asn1478_Thr1481del
ENST00000618469.2:c.5319_5330del	ENSP00000478114.2:p.Asn1774_Thr1777del
ENST00000634433.2:c.5196_5207del	ENSP00000489431.2:p.Asn1733_Thr1736del
ENST00000644379.2:c.5385_5396del	ENSP00000496570.2:p.Asn1796_Thr1799del
ENST00000644555.2:c.1869_1880del	ENSP00000494614.2:p.Asn624_Thr627del
ENST00000652672.2:c.5178_5189del	ENSP00000498906.2:p.Asn1727_Thr1730del
ENST00000484087.6:c.1881_1892del	ENSP00000419481.2:p.Asn628_Thr631del
ENST00000357654.9:c.5319_5330del MANE Select	ENSP00000350283.3:p.Asn1774_Thr1777del
ENST00000471181.7:c.5382_5393del	ENSP00000418960.2:p.Asn1795_Thr1798del
ENST00000644379.1:c.1706_1717del
ENST00000352993.7:c.1893_1904del	ENSP00000312236.5:p.Asn632_Thr635del
ENST00000357654.7:c.5319_5330del	ENSP00000350283.3:p.Asn1774_Thr1777del
ENST00000461221.5:c.*5102_*5113del	ENSP00000418548.1:n.*5102_*5113del
ENST00000468300.5:c.2007_2018del	ENSP00000417148.1:p.Asn670_Thr673del
ENST00000471181.6:c.5382_5393del	ENSP00000418960.2:p.Asn1795_Thr1798del
ENST00000491747.6:c.2007_2018del	ENSP00000420705.2:p.Asn670_Thr673del
ENST00000493795.5:c.5178_5189del	ENSP00000418775.1:p.Asn1727_Thr1730del
ENST00000586385.5:c.249_260del	ENSP00000465818.1:p.Asn84_Thr87del
ENST00000591534.5:c.792_803del	ENSP00000467329.1:p.Asn265_Thr268del
ENST00000591849.5:c.-98-886_-98-875del	ENSP00000465347.1:n.-98-886_-98-875del
NM_007294.3:c.5319_5330del , LRG_292t1:c.5319_5330del	NP_009225.1:p.Asn1774_Thr1777del
NM_007297.3:c.5178_5189del	NP_009228.2:p.Asn1727_Thr1730del
NM_007298.3:c.2007_2018del	NP_009229.2:p.Asn670_Thr673del
NM_007299.3:c.2007_2018del	NP_009230.2:p.Asn670_Thr673del
NM_007300.3:c.5382_5393del	NP_009231.2:p.Asn1795_Thr1798del
NR_027676.1:n.5455_5466del
NM_007294.4:c.5319_5330del MANE Select	NP_009225.1:p.Asn1774_Thr1777del
NM_007297.4:c.5178_5189del	NP_009228.2:p.Asn1727_Thr1730del
NM_007299.4:c.2007_2018del	NP_009230.2:p.Asn670_Thr673del
NM_007300.4:c.5382_5393del	NP_009231.2:p.Asn1795_Thr1798del
NR_027676.2:n.5496_5507del