Canonical Allele Identifier: CA2260769140

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063282_43063284delinsCTA , CM000679.2:g.43063282_43063284delinsCTA	GRCh38
NC_000017.10:g.41215299_41215301delinsCTA , CM000679.1:g.41215299_41215301delinsCTA	GRCh37
NC_000017.9:g.38468825_38468827delinsCTA	NCBI36
NG_005905.2:g.154700_154702delinsTAG , LRG_292:g.154700_154702delinsTAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5190+49_5190+51delinsTAG	ENSP00000417241.2:n.5190+49_5190+51delinsTAG
ENST00000470026.6:c.5193+49_5193+51delinsTAG	ENSP00000419274.2:n.5193+49_5193+51delinsTAG
ENST00000473961.6:c.5067+49_5067+51delinsTAG	ENSP00000420201.2:n.5067+49_5067+51delinsTAG
ENST00000476777.6:c.5187+49_5187+51delinsTAG	ENSP00000417554.2:n.5187+49_5187+51delinsTAG
ENST00000477152.6:c.5115+49_5115+51delinsTAG	ENSP00000419988.2:n.5115+49_5115+51delinsTAG
ENST00000478531.6:c.1881+49_1881+51delinsTAG	ENSP00000420412.2:n.1881+49_1881+51delinsTAG
ENST00000489037.2:c.5115+49_5115+51delinsTAG	ENSP00000420781.2:n.5115+49_5115+51delinsTAG
ENST00000493919.6:c.1743+49_1743+51delinsTAG	ENSP00000418819.2:n.1743+49_1743+51delinsTAG
ENST00000494123.6:c.5193+49_5193+51delinsTAG	ENSP00000419103.2:n.5193+49_5193+51delinsTAG
ENST00000497488.2:c.4305+49_4305+51delinsTAG	ENSP00000418986.2:n.4305+49_4305+51delinsTAG
ENST00000618469.2:c.5193+49_5193+51delinsTAG	ENSP00000478114.2:n.5193+49_5193+51delinsTAG
ENST00000634433.2:c.5070+49_5070+51delinsTAG	ENSP00000489431.2:n.5070+49_5070+51delinsTAG
ENST00000644379.2:c.5259+49_5259+51delinsTAG	ENSP00000496570.2:n.5259+49_5259+51delinsTAG
ENST00000644555.2:c.1743+49_1743+51delinsTAG	ENSP00000494614.2:n.1743+49_1743+51delinsTAG
ENST00000652672.2:c.5052+49_5052+51delinsTAG	ENSP00000498906.2:n.5052+49_5052+51delinsTAG
ENST00000484087.6:c.1755+49_1755+51delinsTAG	ENSP00000419481.2:n.1755+49_1755+51delinsTAG
ENST00000357654.9:c.5193+49_5193+51delinsTAG MANE Select	ENSP00000350283.3:n.5193+49_5193+51delinsTAG
ENST00000471181.7:c.5256+49_5256+51delinsTAG	ENSP00000418960.2:n.5256+49_5256+51delinsTAG
ENST00000644379.1:c.1580+49_1580+51delinsTAG
ENST00000352993.7:c.1767+49_1767+51delinsTAG	ENSP00000312236.5:n.1767+49_1767+51delinsTAG
ENST00000357654.7:c.5193+49_5193+51delinsTAG	ENSP00000350283.3:n.5193+49_5193+51delinsTAG
ENST00000461221.5:c.*4976+49_*4976+51delinsTAG	ENSP00000418548.1:n.*4976+49_*4976+51delinsTAG
ENST00000468300.5:c.1881+49_1881+51delinsTAG	ENSP00000417148.1:n.1881+49_1881+51delinsTAG
ENST00000471181.6:c.5256+49_5256+51delinsTAG	ENSP00000418960.2:n.5256+49_5256+51delinsTAG
ENST00000491747.6:c.1881+49_1881+51delinsTAG	ENSP00000420705.2:n.1881+49_1881+51delinsTAG
ENST00000493795.5:c.5052+49_5052+51delinsTAG	ENSP00000418775.1:n.5052+49_5052+51delinsTAG
ENST00000586385.5:c.123+49_123+51delinsTAG	ENSP00000465818.1:n.123+49_123+51delinsTAG
ENST00000591534.5:c.666+49_666+51delinsTAG	ENSP00000467329.1:n.666+49_666+51delinsTAG
ENST00000591849.5:c.-98-13094_-98-13092delinsTAG	ENSP00000465347.1:n.-98-13094_-98-13092delinsTAG
NM_007294.3:c.5193+49_5193+51delinsTAG , LRG_292t1:c.5193+49_5193+51delinsTAG	NP_009225.1:n.5193+49_5193+51delinsTAG
NM_007297.3:c.5052+49_5052+51delinsTAG	NP_009228.2:n.5052+49_5052+51delinsTAG
NM_007298.3:c.1881+49_1881+51delinsTAG	NP_009229.2:n.1881+49_1881+51delinsTAG
NM_007299.3:c.1881+49_1881+51delinsTAG	NP_009230.2:n.1881+49_1881+51delinsTAG
NM_007300.3:c.5256+49_5256+51delinsTAG	NP_009231.2:n.5256+49_5256+51delinsTAG
NR_027676.1:n.5329+49_5329+51delinsTAG
NM_007294.4:c.5193+49_5193+51delinsTAG MANE Select	NP_009225.1:n.5193+49_5193+51delinsTAG
NM_007297.4:c.5052+49_5052+51delinsTAG	NP_009228.2:n.5052+49_5052+51delinsTAG
NM_007299.4:c.1881+49_1881+51delinsTAG	NP_009230.2:n.1881+49_1881+51delinsTAG
NM_007300.4:c.5256+49_5256+51delinsTAG	NP_009231.2:n.5256+49_5256+51delinsTAG
NR_027676.2:n.5370+49_5370+51delinsTAG