Canonical Allele Identifier: CA658824724

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548270
• ClinVar RCV Id: RCV000661232
• dbSNP Id: rs1555579630
• MyVariant Identifiers: chr17:g.41219639_41219640insGTTG (hg19) ; chr17:g.43067622_43067623insGTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067622_43067623insGTTG , CM000679.2:g.43067622_43067623insGTTG	GRCh38
NC_000017.10:g.41219639_41219640insGTTG , CM000679.1:g.41219639_41219640insGTTG	GRCh37
NC_000017.9:g.38473165_38473166insGTTG	NCBI36
NG_005905.2:g.150361_150362insCAAC , LRG_292:g.150361_150362insCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5056_5057insCAAC	ENSP00000417241.2:p.Val1686AlafsTer9
ENST00000470026.6:c.5059_5060insCAAC	ENSP00000419274.2:p.Val1687AlafsTer9
ENST00000473961.6:c.4933_4934insCAAC	ENSP00000420201.2:p.Val1645AlafsTer9
ENST00000476777.6:c.5053_5054insCAAC	ENSP00000417554.2:p.Val1685AlafsTer9
ENST00000477152.6:c.4981_4982insCAAC	ENSP00000419988.2:p.Val1661AlafsTer9
ENST00000478531.6:c.1747_1748insCAAC	ENSP00000420412.2:p.Val583AlafsTer9
ENST00000489037.2:c.4981_4982insCAAC	ENSP00000420781.2:p.Val1661AlafsTer9
ENST00000493919.6:c.1609_1610insCAAC	ENSP00000418819.2:p.Val537AlafsTer9
ENST00000494123.6:c.5059_5060insCAAC	ENSP00000419103.2:p.Val1687AlafsTer9
ENST00000497488.2:c.4171_4172insCAAC	ENSP00000418986.2:p.Val1391AlafsTer9
ENST00000618469.2:c.5059_5060insCAAC	ENSP00000478114.2:p.Val1687AlafsTer9
ENST00000634433.2:c.4936_4937insCAAC	ENSP00000489431.2:p.Val1646AlafsTer9
ENST00000644379.2:c.5125_5126insCAAC	ENSP00000496570.2:p.Val1709AlafsTer9
ENST00000644555.2:c.1609_1610insCAAC	ENSP00000494614.2:p.Val537AlafsTer9
ENST00000652672.2:c.4918_4919insCAAC	ENSP00000498906.2:p.Val1640AlafsTer9
ENST00000484087.6:c.1621_1622insCAAC	ENSP00000419481.2:p.Val541AlafsTer9
ENST00000357654.9:c.5059_5060insCAAC MANE Select	ENSP00000350283.3:p.Val1687AlafsTer9
ENST00000471181.7:c.5122_5123insCAAC	ENSP00000418960.2:p.Val1708AlafsTer9
ENST00000644379.1:c.1446_1447insCAAC
ENST00000352993.7:c.1633_1634insCAAC	ENSP00000312236.5:p.Val545AlafsTer9
ENST00000357654.7:c.5059_5060insCAAC	ENSP00000350283.3:p.Val1687AlafsTer9
ENST00000461221.5:c.*4842_*4843insCAAC	ENSP00000418548.1:n.*4842_*4843insCAAC
ENST00000468300.5:c.1747_1748insCAAC	ENSP00000417148.1:p.Val583AlafsTer9
ENST00000471181.6:c.5122_5123insCAAC	ENSP00000418960.2:p.Val1708AlafsTer9
ENST00000472490.1:n.212_213insCAAC
ENST00000478531.5:c.1747_1748insCAAC	ENSP00000420412.1:p.Val583AlafsTer9
ENST00000484087.5:c.1372_1373insCAAC	ENSP00000419481.1:p.Val458AlafsTer9
ENST00000491747.6:c.1747_1748insCAAC	ENSP00000420705.2:p.Val583AlafsTer9
ENST00000493795.5:c.4918_4919insCAAC	ENSP00000418775.1:p.Val1640AlafsTer9
ENST00000493919.5:c.1609_1610insCAAC	ENSP00000418819.1:p.Val537AlafsTer9
ENST00000586385.5:c.5-3672_5-3671insCAAC	ENSP00000465818.1:n.5-3672_5-3671insCAAC
ENST00000591534.5:c.532_533insCAAC	ENSP00000467329.1:p.Val178AlafsTer9
ENST00000591849.5:c.-98-17433_-98-17432insCAAC	ENSP00000465347.1:n.-98-17433_-98-17432insCAAC
NM_007294.3:c.5059_5060insCAAC , LRG_292t1:c.5059_5060insCAAC	NP_009225.1:p.Val1687AlafsTer9
NM_007297.3:c.4918_4919insCAAC	NP_009228.2:p.Val1640AlafsTer9
NM_007298.3:c.1747_1748insCAAC	NP_009229.2:p.Val583AlafsTer9
NM_007299.3:c.1747_1748insCAAC	NP_009230.2:p.Val583AlafsTer9
NM_007300.3:c.5122_5123insCAAC	NP_009231.2:p.Val1708AlafsTer9
NR_027676.1:n.5195_5196insCAAC
NM_007294.4:c.5059_5060insCAAC MANE Select	NP_009225.1:p.Val1687AlafsTer9
NM_007297.4:c.4918_4919insCAAC	NP_009228.2:p.Val1640AlafsTer9
NM_007299.4:c.1747_1748insCAAC	NP_009230.2:p.Val583AlafsTer9
NM_007300.4:c.5122_5123insCAAC	NP_009231.2:p.Val1708AlafsTer9
NR_027676.2:n.5236_5237insCAAC