Canonical Allele Identifier: CA645509516

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 438915
• ClinVar RCV Id: RCV000505897 ; RCV000509765 ; RCV000802622 ; RCV004554793
• dbSNP Id: rs1555591274

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093767_43093768delinsAA , CM000679.2:g.43093767_43093768delinsAA	GRCh38
NC_000017.10:g.41245784_41245785delinsAA , CM000679.1:g.41245784_41245785delinsAA	GRCh37
NC_000017.9:g.38499310_38499311delinsAA	NCBI36
NG_005905.2:g.124216_124217delinsTT , LRG_292:g.124216_124217delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1827_1828delinsTT
ENST00000461574.2:c.1763_1764delinsTT	ENSP00000417241.2:p.Ser588Ile
ENST00000470026.6:c.1763_1764delinsTT	ENSP00000419274.2:p.Ser588Ile
ENST00000473961.6:c.1637_1638delinsTT	ENSP00000420201.2:p.Ser546Ile
ENST00000476777.6:c.1760_1761delinsTT	ENSP00000417554.2:p.Ser587Ile
ENST00000477152.6:c.1685_1686delinsTT	ENSP00000419988.2:p.Ser562Ile
ENST00000478531.6:c.784+976_784+977delinsTT	ENSP00000420412.2:n.784+976_784+977delinsTT
ENST00000489037.2:c.1685_1686delinsTT	ENSP00000420781.2:p.Ser562Ile
ENST00000493919.6:c.646+976_646+977delinsTT	ENSP00000418819.2:n.646+976_646+977delinsTT
ENST00000494123.6:c.1763_1764delinsTT	ENSP00000419103.2:p.Ser588Ile
ENST00000497488.2:c.875_876delinsTT	ENSP00000418986.2:p.Ser292Ile
ENST00000618469.2:c.1763_1764delinsTT	ENSP00000478114.2:p.Ser588Ile
ENST00000634433.2:c.1640_1641delinsTT	ENSP00000489431.2:p.Ser547Ile
ENST00000644379.2:c.1763_1764delinsTT	ENSP00000496570.2:p.Ser588Ile
ENST00000644555.2:c.646+976_646+977delinsTT	ENSP00000494614.2:n.646+976_646+977delinsTT
ENST00000652672.2:c.1622_1623delinsTT	ENSP00000498906.2:p.Ser541Ile
ENST00000484087.6:c.664+976_664+977delinsTT	ENSP00000419481.2:n.664+976_664+977delinsTT
ENST00000700182.1:c.706+976_706+977delinsTT	ENSP00000514849.1:n.706+976_706+977delinsTT
ENST00000357654.9:c.1763_1764delinsTT MANE Select	ENSP00000350283.3:p.Ser588Ile
ENST00000471181.7:c.1763_1764delinsTT	ENSP00000418960.2:p.Ser588Ile
ENST00000652672.1:c.1622_1623delinsTT	ENSP00000498906.1:p.Ser541Ile
ENST00000352993.7:c.670+2078_670+2079delinsTT	ENSP00000312236.5:n.670+2078_670+2079delinsTT
ENST00000354071.7:c.1763_1764delinsTT	ENSP00000326002.7:p.Ser588Ile
ENST00000357654.7:c.1763_1764delinsTT	ENSP00000350283.3:p.Ser588Ile
ENST00000412061.3:c.1114_1115delinsTT
ENST00000461221.5:c.*1546_*1547delinsTT	ENSP00000418548.1:n.*1546_*1547delinsTT
ENST00000468300.5:c.787+976_787+977delinsTT	ENSP00000417148.1:n.787+976_787+977delinsTT
ENST00000470026.5:c.1763_1764delinsTT	ENSP00000419274.1:p.Ser588Ile
ENST00000471181.6:c.1763_1764delinsTT	ENSP00000418960.2:p.Ser588Ile
ENST00000477152.5:c.1685_1686delinsTT	ENSP00000419988.1:p.Ser562Ile
ENST00000478531.5:c.784+976_784+977delinsTT	ENSP00000420412.1:n.784+976_784+977delinsTT
ENST00000484087.5:c.409+976_409+977delinsTT	ENSP00000419481.1:n.409+976_409+977delinsTT
ENST00000487825.5:c.412+976_412+977delinsTT	ENSP00000418212.1:n.412+976_412+977delinsTT
ENST00000491747.6:c.787+976_787+977delinsTT	ENSP00000420705.2:n.787+976_787+977delinsTT
ENST00000493795.5:c.1622_1623delinsTT	ENSP00000418775.1:p.Ser541Ile
ENST00000493919.5:c.646+976_646+977delinsTT	ENSP00000418819.1:n.646+976_646+977delinsTT
ENST00000586385.5:c.5-29817_5-29816delinsTT	ENSP00000465818.1:n.5-29817_5-29816delinsTT
ENST00000591534.5:c.-43-19247_-43-19246delinsTT	ENSP00000467329.1:n.-43-19247_-43-19246delinsTT
ENST00000591849.5:c.-99+31503_-99+31504delinsTT	ENSP00000465347.1:n.-99+31503_-99+31504delinsTT
ENST00000634433.1:c.1640_1641delinsTT	ENSP00000489431.1:p.Ser547Ile
NM_007294.3:c.1763_1764delinsTT , LRG_292t1:c.1763_1764delinsTT	NP_009225.1:p.Ser588Ile
NM_007297.3:c.1622_1623delinsTT	NP_009228.2:p.Ser541Ile
NM_007298.3:c.787+976_787+977delinsTT	NP_009229.2:n.787+976_787+977delinsTT
NM_007299.3:c.787+976_787+977delinsTT	NP_009230.2:n.787+976_787+977delinsTT
NM_007300.3:c.1763_1764delinsTT	NP_009231.2:p.Ser588Ile
NR_027676.1:n.1899_1900delinsTT
NM_007294.4:c.1763_1764delinsTT MANE Select	NP_009225.1:p.Ser588Ile
NM_007297.4:c.1622_1623delinsTT	NP_009228.2:p.Ser541Ile
NM_007299.4:c.787+976_787+977delinsTT	NP_009230.2:n.787+976_787+977delinsTT
NM_007300.4:c.1763_1764delinsTT	NP_009231.2:p.Ser588Ile
NR_027676.2:n.1940_1941delinsTT