Canonical Allele Identifier: CA983873401

Gene: BRCA1

Linked Data

• gnomAD v3: 17-43067854-T-TTTTTTTG
• gnomAD v4: 17-43067854-T-TTTTTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067855_43067856insTTTTTGT , CM000679.2:g.43067855_43067856insTTTTTGT	GRCh38
NC_000017.10:g.41219872_41219873insTTTTTGT , CM000679.1:g.41219872_41219873insTTTTTGT	GRCh37
NC_000017.9:g.38473398_38473399insTTTTTGT	NCBI36
NG_005905.2:g.150129_150130insCAAAAAA , LRG_292:g.150129_150130insCAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4984-160_4984-159insCAAAAAA	ENSP00000417241.2:n.4984-160_4984-159insCAAAAAA
ENST00000470026.6:c.4987-160_4987-159insCAAAAAA	ENSP00000419274.2:n.4987-160_4987-159insCAAAAAA
ENST00000473961.6:c.4861-160_4861-159insCAAAAAA	ENSP00000420201.2:n.4861-160_4861-159insCAAAAAA
ENST00000476777.6:c.4981-160_4981-159insCAAAAAA	ENSP00000417554.2:n.4981-160_4981-159insCAAAAAA
ENST00000477152.6:c.4909-160_4909-159insCAAAAAA	ENSP00000419988.2:n.4909-160_4909-159insCAAAAAA
ENST00000478531.6:c.1675-160_1675-159insCAAAAAA	ENSP00000420412.2:n.1675-160_1675-159insCAAAAAA
ENST00000489037.2:c.4909-160_4909-159insCAAAAAA	ENSP00000420781.2:n.4909-160_4909-159insCAAAAAA
ENST00000493919.6:c.1537-160_1537-159insCAAAAAA	ENSP00000418819.2:n.1537-160_1537-159insCAAAAAA
ENST00000494123.6:c.4987-160_4987-159insCAAAAAA	ENSP00000419103.2:n.4987-160_4987-159insCAAAAAA
ENST00000497488.2:c.4099-160_4099-159insCAAAAAA	ENSP00000418986.2:n.4099-160_4099-159insCAAAAAA
ENST00000618469.2:c.4987-160_4987-159insCAAAAAA	ENSP00000478114.2:n.4987-160_4987-159insCAAAAAA
ENST00000634433.2:c.4864-160_4864-159insCAAAAAA	ENSP00000489431.2:n.4864-160_4864-159insCAAAAAA
ENST00000644379.2:c.5053-160_5053-159insCAAAAAA	ENSP00000496570.2:n.5053-160_5053-159insCAAAAAA
ENST00000644555.2:c.1537-160_1537-159insCAAAAAA	ENSP00000494614.2:n.1537-160_1537-159insCAAAAAA
ENST00000652672.2:c.4846-160_4846-159insCAAAAAA	ENSP00000498906.2:n.4846-160_4846-159insCAAAAAA
ENST00000484087.6:c.1549-160_1549-159insCAAAAAA	ENSP00000419481.2:n.1549-160_1549-159insCAAAAAA
ENST00000357654.9:c.4987-160_4987-159insCAAAAAA MANE Select	ENSP00000350283.3:n.4987-160_4987-159insCAAAAAA
ENST00000471181.7:c.5050-160_5050-159insCAAAAAA	ENSP00000418960.2:n.5050-160_5050-159insCAAAAAA
ENST00000644379.1:c.1374-160_1374-159insCAAAAAA
ENST00000352993.7:c.1561-160_1561-159insCAAAAAA	ENSP00000312236.5:n.1561-160_1561-159insCAAAAAA
ENST00000357654.7:c.4987-160_4987-159insCAAAAAA	ENSP00000350283.3:n.4987-160_4987-159insCAAAAAA
ENST00000461221.5:c.*4770-160_*4770-159insCAAAAAA	ENSP00000418548.1:n.*4770-160_*4770-159insCAAAAAA
ENST00000468300.5:c.1675-160_1675-159insCAAAAAA	ENSP00000417148.1:n.1675-160_1675-159insCAAAAAA
ENST00000471181.6:c.5050-160_5050-159insCAAAAAA	ENSP00000418960.2:n.5050-160_5050-159insCAAAAAA
ENST00000472490.1:n.140-160_140-159insCAAAAAA
ENST00000478531.5:c.1675-160_1675-159insCAAAAAA	ENSP00000420412.1:n.1675-160_1675-159insCAAAAAA
ENST00000484087.5:c.1300-160_1300-159insCAAAAAA	ENSP00000419481.1:n.1300-160_1300-159insCAAAAAA
ENST00000491747.6:c.1675-160_1675-159insCAAAAAA	ENSP00000420705.2:n.1675-160_1675-159insCAAAAAA
ENST00000493795.5:c.4846-160_4846-159insCAAAAAA	ENSP00000418775.1:n.4846-160_4846-159insCAAAAAA
ENST00000493919.5:c.1537-160_1537-159insCAAAAAA	ENSP00000418819.1:n.1537-160_1537-159insCAAAAAA
ENST00000586385.5:c.5-3904_5-3903insCAAAAAA	ENSP00000465818.1:n.5-3904_5-3903insCAAAAAA
ENST00000591534.5:c.460-160_460-159insCAAAAAA	ENSP00000467329.1:n.460-160_460-159insCAAAAAA
ENST00000591849.5:c.-98-17665_-98-17664insCAAAAAA	ENSP00000465347.1:n.-98-17665_-98-17664insCAAAAAA
NM_007294.3:c.4987-160_4987-159insCAAAAAA , LRG_292t1:c.4987-160_4987-159insCAAAAAA	NP_009225.1:n.4987-160_4987-159insCAAAAAA
NM_007297.3:c.4846-160_4846-159insCAAAAAA	NP_009228.2:n.4846-160_4846-159insCAAAAAA
NM_007298.3:c.1675-160_1675-159insCAAAAAA	NP_009229.2:n.1675-160_1675-159insCAAAAAA
NM_007299.3:c.1675-160_1675-159insCAAAAAA	NP_009230.2:n.1675-160_1675-159insCAAAAAA
NM_007300.3:c.5050-160_5050-159insCAAAAAA	NP_009231.2:n.5050-160_5050-159insCAAAAAA
NR_027676.1:n.5123-160_5123-159insCAAAAAA
NM_007294.4:c.4987-160_4987-159insCAAAAAA MANE Select	NP_009225.1:n.4987-160_4987-159insCAAAAAA
NM_007297.4:c.4846-160_4846-159insCAAAAAA	NP_009228.2:n.4846-160_4846-159insCAAAAAA
NM_007299.4:c.1675-160_1675-159insCAAAAAA	NP_009230.2:n.1675-160_1675-159insCAAAAAA
NM_007300.4:c.5050-160_5050-159insCAAAAAA	NP_009231.2:n.5050-160_5050-159insCAAAAAA
NR_027676.2:n.5164-160_5164-159insCAAAAAA