Canonical Allele Identifier: CA2638036267

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43045705-T-TAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045706_43045707insGGA , CM000679.2:g.43045706_43045707insGGA	GRCh38
NC_000017.10:g.41197723_41197724insGGA , CM000679.1:g.41197723_41197724insGGA	GRCh37
NC_000017.9:g.38451249_38451250insGGA	NCBI36
NG_005905.2:g.172278_172279insCCT , LRG_292:g.172278_172279insCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5561_5562insCCT	ENSP00000417241.2:p.Ile1854_Pro1855insLeu
ENST00000470026.6:c.5564_5565insCCT	ENSP00000419274.2:p.Ile1855_Pro1856insLeu
ENST00000473961.6:c.5438_5439insCCT	ENSP00000420201.2:p.Ile1813_Pro1814insLeu
ENST00000476777.6:c.5558_5559insCCT	ENSP00000417554.2:p.Ile1853_Pro1854insLeu
ENST00000477152.6:c.5486_5487insCCT	ENSP00000419988.2:p.Ile1829_Pro1830insLeu
ENST00000478531.6:c.2252_2253insCCT	ENSP00000420412.2:p.Ile751_Pro752insLeu
ENST00000489037.2:c.5486_5487insCCT	ENSP00000420781.2:p.Ile1829_Pro1830insLeu
ENST00000493919.6:c.2114_2115insCCT	ENSP00000418819.2:p.Ile705_Pro706insLeu
ENST00000494123.6:c.5564_5565insCCT	ENSP00000419103.2:p.Ile1855_Pro1856insLeu
ENST00000497488.2:c.4676_4677insCCT	ENSP00000418986.2:p.Ile1559_Pro1560insLeu
ENST00000618469.2:c.5564_5565insCCT	ENSP00000478114.2:p.Ile1855_Pro1856insLeu
ENST00000634433.2:c.5441_5442insCCT	ENSP00000489431.2:p.Ile1814_Pro1815insLeu
ENST00000644379.2:c.5630_5631insCCT	ENSP00000496570.2:p.Ile1877_Pro1878insLeu
ENST00000644555.2:c.2114_2115insCCT	ENSP00000494614.2:p.Ile705_Pro706insLeu
ENST00000652672.2:c.5423_5424insCCT	ENSP00000498906.2:p.Ile1808_Pro1809insLeu
ENST00000484087.6:c.2126_2127insCCT	ENSP00000419481.2:p.Ile709_Pro710insLeu
ENST00000700081.1:n.1447_1448insCCT
ENST00000700082.1:n.928_929insCCT
ENST00000357654.9:c.5564_5565insCCT MANE Select	ENSP00000350283.3:p.Ile1855_Pro1856insLeu
ENST00000471181.7:c.5627_5628insCCT	ENSP00000418960.2:p.Ile1876_Pro1877insLeu
ENST00000644379.1:c.1951_1952insCCT
ENST00000352993.7:c.2138_2139insCCT	ENSP00000312236.5:p.Ile713_Pro714insLeu
ENST00000357654.7:c.5564_5565insCCT	ENSP00000350283.3:p.Ile1855_Pro1856insLeu
ENST00000461221.5:c.*5347_*5348insCCT	ENSP00000418548.1:n.*5347_*5348insCCT
ENST00000468300.5:c.*78_*79insCCT	ENSP00000417148.1:n.*78_*79insCCT
ENST00000471181.6:c.5627_5628insCCT	ENSP00000418960.2:p.Ile1876_Pro1877insLeu
ENST00000491747.6:c.2252_2253insCCT	ENSP00000420705.2:p.Ile751_Pro752insLeu
ENST00000493795.5:c.5423_5424insCCT	ENSP00000418775.1:p.Ile1808_Pro1809insLeu
ENST00000586385.5:c.494_495insCCT	ENSP00000465818.1:p.Ile165_Pro166insLeu
ENST00000591534.5:c.1037_1038insCCT	ENSP00000467329.1:p.Ile346_Pro347insLeu
ENST00000591849.5:c.263_264insCCT	ENSP00000465347.1:p.Ile88_Pro89insLeu
NM_007294.3:c.5564_5565insCCT , LRG_292t1:c.5564_5565insCCT	NP_009225.1:p.Ile1855_Pro1856insLeu
NM_007297.3:c.5423_5424insCCT	NP_009228.2:p.Ile1808_Pro1809insLeu
NM_007298.3:c.2252_2253insCCT	NP_009229.2:p.Ile751_Pro752insLeu
NM_007299.3:c.*78_*79insCCT	NP_009230.2:n.*78_*79insCCT
NM_007300.3:c.5627_5628insCCT	NP_009231.2:p.Ile1876_Pro1877insLeu
NR_027676.1:n.5700_5701insCCT
NM_007294.4:c.5564_5565insCCT MANE Select	NP_009225.1:p.Ile1855_Pro1856insLeu
NM_007297.4:c.5423_5424insCCT	NP_009228.2:p.Ile1808_Pro1809insLeu
NM_007299.4:c.*78_*79insCCT	NP_009230.2:n.*78_*79insCCT
NM_007300.4:c.5627_5628insCCT	NP_009231.2:p.Ile1876_Pro1877insLeu
NR_027676.2:n.5741_5742insCCT