Canonical Allele Identifier: CA2573334971
Community Standard Title: NM_007294.4(BRCA1):c.5138_5139delinsGG (p.Val1713Gly)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063887_43063888delinsCC , CM000679.2:g.43063887_43063888delinsCC GRCh38
NC_000017.10:g.41215904_41215905delinsCC , CM000679.1:g.41215904_41215905delinsCC GRCh37
NC_000017.9:g.38469430_38469431delinsCC NCBI36
NG_005905.2:g.154096_154097delinsGG , LRG_292:g.154096_154097delinsGG

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5138_5139delinsGG MANE Select NP_009225.1:p.Val1713Gly
ENST00000357654.9:c.5138_5139delinsGG MANE Select ENSP00000350283.3:p.Val1713Gly
NM_007294.3:c.5138_5139delinsGG , LRG_292t1:c.5138_5139delinsGG NP_009225.1:p.Val1713Gly
NM_007297.3:c.4997_4998delinsGG NP_009228.2:p.Val1666Gly
NM_007297.4:c.4997_4998delinsGG NP_009228.2:p.Val1666Gly
NM_007298.3:c.1826_1827delinsGG NP_009229.2:p.Val609Gly
NM_007299.3:c.1826_1827delinsGG NP_009230.2:p.Val609Gly
NM_007299.4:c.1826_1827delinsGG NP_009230.2:p.Val609Gly
NM_007300.3:c.5201_5202delinsGG NP_009231.2:p.Val1734Gly
NM_007300.4:c.5201_5202delinsGG NP_009231.2:p.Val1734Gly
NR_027676.1:n.5274_5275delinsGG
NR_027676.2:n.5315_5316delinsGG
ENST00000352993.7:c.1712_1713delinsGG ENSP00000312236.5:p.Val571Gly
ENST00000357654.7:c.5138_5139delinsGG ENSP00000350283.3:p.Val1713Gly
ENST00000461221.5:c.*4921_*4922delinsGG ENSP00000418548.1:n.*4921_*4922delinsGG
ENST00000461574.2:c.5135_5136delinsGG ENSP00000417241.2:p.Val1712Gly
ENST00000468300.5:c.1826_1827delinsGG ENSP00000417148.1:p.Val609Gly
ENST00000470026.6:c.5138_5139delinsGG ENSP00000419274.2:p.Val1713Gly
ENST00000471181.6:c.5201_5202delinsGG ENSP00000418960.2:p.Val1734Gly
ENST00000471181.7:c.5201_5202delinsGG ENSP00000418960.2:p.Val1734Gly
ENST00000473961.6:c.5012_5013delinsGG ENSP00000420201.2:p.Val1671Gly
ENST00000476777.6:c.5132_5133delinsGG ENSP00000417554.2:p.Val1711Gly
ENST00000477152.6:c.5060_5061delinsGG ENSP00000419988.2:p.Val1687Gly
ENST00000478531.5:c.1826_1827delinsGG ENSP00000420412.1:p.Val609Gly
ENST00000478531.6:c.1826_1827delinsGG ENSP00000420412.2:p.Val609Gly
ENST00000484087.5:c.1451_1452delinsGG ENSP00000419481.1:p.Val484Gly
ENST00000484087.6:c.1700_1701delinsGG ENSP00000419481.2:p.Val567Gly
ENST00000489037.2:c.5060_5061delinsGG ENSP00000420781.2:p.Val1687Gly
ENST00000491747.6:c.1826_1827delinsGG ENSP00000420705.2:p.Val609Gly
ENST00000493795.5:c.4997_4998delinsGG ENSP00000418775.1:p.Val1666Gly
ENST00000493919.5:c.1688_1689delinsGG ENSP00000418819.1:p.Val563Gly
ENST00000493919.6:c.1688_1689delinsGG ENSP00000418819.2:p.Val563Gly
ENST00000494123.6:c.5138_5139delinsGG ENSP00000419103.2:p.Val1713Gly
ENST00000497488.2:c.4250_4251delinsGG ENSP00000418986.2:p.Val1417Gly
ENST00000586385.5:c.68_69delinsGG ENSP00000465818.1:p.Val23Gly
ENST00000591534.5:c.611_612delinsGG ENSP00000467329.1:p.Val204Gly
ENST00000591849.5:c.-98-13698_-98-13697delinsGG ENSP00000465347.1:n.-98-13698_-98-13697delinsGG
ENST00000618469.2:c.5138_5139delinsGG ENSP00000478114.2:p.Val1713Gly
ENST00000634433.2:c.5015_5016delinsGG ENSP00000489431.2:p.Val1672Gly
ENST00000644379.1:c.1525_1526delinsGG
ENST00000644379.2:c.5204_5205delinsGG ENSP00000496570.2:p.Val1735Gly
ENST00000644555.2:c.1688_1689delinsGG ENSP00000494614.2:p.Val563Gly
ENST00000652672.2:c.4997_4998delinsGG ENSP00000498906.2:p.Val1666Gly