Canonical Allele Identifier: CA2638060999

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43050940-TAGAATAGCCTCTAGAACATTTCAGCAATCTGAGGAACCCCCATCGTGGGATCTTGCTTATAATACTCCACTATGTAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43050942_43051019del , CM000679.2:g.43050942_43051019del	GRCh38
NC_000017.10:g.41202959_41203036del , CM000679.1:g.41202959_41203036del	GRCh37
NC_000017.9:g.38456485_38456562del	NCBI36
NG_005905.2:g.166966_167043del , LRG_292:g.166966_167043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5329+45_5329+122del	ENSP00000417241.2:n.5329+45_5329+122del
ENST00000470026.6:c.5332+45_5332+122del	ENSP00000419274.2:n.5332+45_5332+122del
ENST00000473961.6:c.5206+45_5206+122del	ENSP00000420201.2:n.5206+45_5206+122del
ENST00000476777.6:c.5326+45_5326+122del	ENSP00000417554.2:n.5326+45_5326+122del
ENST00000477152.6:c.5254+45_5254+122del	ENSP00000419988.2:n.5254+45_5254+122del
ENST00000478531.6:c.2020+45_2020+122del	ENSP00000420412.2:n.2020+45_2020+122del
ENST00000489037.2:c.5254+45_5254+122del	ENSP00000420781.2:n.5254+45_5254+122del
ENST00000493919.6:c.1882+45_1882+122del	ENSP00000418819.2:n.1882+45_1882+122del
ENST00000494123.6:c.5332+45_5332+122del	ENSP00000419103.2:n.5332+45_5332+122del
ENST00000497488.2:c.4444+45_4444+122del	ENSP00000418986.2:n.4444+45_4444+122del
ENST00000618469.2:c.5332+45_5332+122del	ENSP00000478114.2:n.5332+45_5332+122del
ENST00000634433.2:c.5209+45_5209+122del	ENSP00000489431.2:n.5209+45_5209+122del
ENST00000644379.2:c.5398+45_5398+122del	ENSP00000496570.2:n.5398+45_5398+122del
ENST00000644555.2:c.1882+45_1882+122del	ENSP00000494614.2:n.1882+45_1882+122del
ENST00000652672.2:c.5191+45_5191+122del	ENSP00000498906.2:n.5191+45_5191+122del
ENST00000484087.6:c.1894+45_1894+122del	ENSP00000419481.2:n.1894+45_1894+122del
ENST00000357654.9:c.5332+45_5332+122del MANE Select	ENSP00000350283.3:n.5332+45_5332+122del
ENST00000471181.7:c.5395+45_5395+122del	ENSP00000418960.2:n.5395+45_5395+122del
ENST00000644379.1:c.1719+45_1719+122del
ENST00000352993.7:c.1906+45_1906+122del	ENSP00000312236.5:n.1906+45_1906+122del
ENST00000357654.7:c.5332+45_5332+122del	ENSP00000350283.3:n.5332+45_5332+122del
ENST00000461221.5:c.*5115+45_*5115+122del	ENSP00000418548.1:n.*5115+45_*5115+122del
ENST00000468300.5:c.2020+45_2020+122del	ENSP00000417148.1:n.2020+45_2020+122del
ENST00000471181.6:c.5395+45_5395+122del	ENSP00000418960.2:n.5395+45_5395+122del
ENST00000491747.6:c.2020+45_2020+122del	ENSP00000420705.2:n.2020+45_2020+122del
ENST00000493795.5:c.5191+45_5191+122del	ENSP00000418775.1:n.5191+45_5191+122del
ENST00000586385.5:c.262+45_262+122del	ENSP00000465818.1:n.262+45_262+122del
ENST00000591534.5:c.805+45_805+122del	ENSP00000467329.1:n.805+45_805+122del
ENST00000591849.5:c.-98-828_-98-751del	ENSP00000465347.1:n.-98-828_-98-751del
NM_007294.3:c.5332+45_5332+122del , LRG_292t1:c.5332+45_5332+122del	NP_009225.1:n.5332+45_5332+122del
NM_007297.3:c.5191+45_5191+122del	NP_009228.2:n.5191+45_5191+122del
NM_007298.3:c.2020+45_2020+122del	NP_009229.2:n.2020+45_2020+122del
NM_007299.3:c.2020+45_2020+122del	NP_009230.2:n.2020+45_2020+122del
NM_007300.3:c.5395+45_5395+122del	NP_009231.2:n.5395+45_5395+122del
NR_027676.1:n.5468+45_5468+122del
NM_007294.4:c.5332+45_5332+122del MANE Select	NP_009225.1:n.5332+45_5332+122del
NM_007297.4:c.5191+45_5191+122del	NP_009228.2:n.5191+45_5191+122del
NM_007299.4:c.2020+45_2020+122del	NP_009230.2:n.2020+45_2020+122del
NM_007300.4:c.5395+45_5395+122del	NP_009231.2:n.5395+45_5395+122del
NR_027676.2:n.5509+45_5509+122del