Canonical Allele Identifier: CA2260782218

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091739_43091740delinsCT , CM000679.2:g.43091739_43091740delinsCT	GRCh38
NC_000017.10:g.41243756_41243757delinsCT , CM000679.1:g.41243756_41243757delinsCT	GRCh37
NC_000017.9:g.38497282_38497283delinsCT	NCBI36
NG_005905.2:g.126244_126245delinsAG , LRG_292:g.126244_126245delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3855_3856delinsAG
ENST00000461574.2:c.3791_3792delinsAG	ENSP00000417241.2:p.Lys1264=
ENST00000470026.6:c.3791_3792delinsAG	ENSP00000419274.2:p.Lys1264=
ENST00000473961.6:c.3665_3666delinsAG	ENSP00000420201.2:p.Lys1222=
ENST00000476777.6:c.3788_3789delinsAG	ENSP00000417554.2:p.Lys1263=
ENST00000477152.6:c.3713_3714delinsAG	ENSP00000419988.2:p.Lys1238=
ENST00000478531.6:c.785-708_785-707delinsAG	ENSP00000420412.2:n.785-708_785-707delinsAG
ENST00000489037.2:c.3713_3714delinsAG	ENSP00000420781.2:p.Lys1238=
ENST00000493919.6:c.647-708_647-707delinsAG	ENSP00000418819.2:n.647-708_647-707delinsAG
ENST00000494123.6:c.3791_3792delinsAG	ENSP00000419103.2:p.Lys1264=
ENST00000497488.2:c.2903_2904delinsAG	ENSP00000418986.2:p.Lys968=
ENST00000618469.2:c.3791_3792delinsAG	ENSP00000478114.2:p.Lys1264=
ENST00000634433.2:c.3668_3669delinsAG	ENSP00000489431.2:p.Lys1223=
ENST00000644379.2:c.3791_3792delinsAG	ENSP00000496570.2:p.Lys1264=
ENST00000644555.2:c.647-708_647-707delinsAG	ENSP00000494614.2:n.647-708_647-707delinsAG
ENST00000652672.2:c.3650_3651delinsAG	ENSP00000498906.2:p.Lys1217=
ENST00000484087.6:c.665-708_665-707delinsAG	ENSP00000419481.2:n.665-708_665-707delinsAG
ENST00000700182.1:c.707-708_707-707delinsAG	ENSP00000514849.1:n.707-708_707-707delinsAG
ENST00000357654.9:c.3791_3792delinsAG MANE Select	ENSP00000350283.3:p.Lys1264=
ENST00000471181.7:c.3791_3792delinsAG	ENSP00000418960.2:p.Lys1264=
ENST00000644379.1:c.112_113delinsAG
ENST00000352993.7:c.671-708_671-707delinsAG	ENSP00000312236.5:n.671-708_671-707delinsAG
ENST00000354071.7:c.3791_3792delinsAG	ENSP00000326002.7:p.Lys1264=
ENST00000357654.7:c.3791_3792delinsAG	ENSP00000350283.3:p.Lys1264=
ENST00000461221.5:c.*3574_*3575delinsAG	ENSP00000418548.1:n.*3574_*3575delinsAG
ENST00000461574.1:c.85_86delinsAG
ENST00000468300.5:c.788-708_788-707delinsAG	ENSP00000417148.1:n.788-708_788-707delinsAG
ENST00000471181.6:c.3791_3792delinsAG	ENSP00000418960.2:p.Lys1264=
ENST00000478531.5:c.785-708_785-707delinsAG	ENSP00000420412.1:n.785-708_785-707delinsAG
ENST00000484087.5:c.410-708_410-707delinsAG	ENSP00000419481.1:n.410-708_410-707delinsAG
ENST00000487825.5:c.413-708_413-707delinsAG	ENSP00000418212.1:n.413-708_413-707delinsAG
ENST00000491747.6:c.788-708_788-707delinsAG	ENSP00000420705.2:n.788-708_788-707delinsAG
ENST00000493795.5:c.3650_3651delinsAG	ENSP00000418775.1:p.Lys1217=
ENST00000493919.5:c.647-708_647-707delinsAG	ENSP00000418819.1:n.647-708_647-707delinsAG
ENST00000586385.5:c.5-27789_5-27788delinsAG	ENSP00000465818.1:n.5-27789_5-27788delinsAG
ENST00000591534.5:c.-43-17219_-43-17218delinsAG	ENSP00000467329.1:n.-43-17219_-43-17218delinsAG
ENST00000591849.5:c.-99+33531_-99+33532delinsAG	ENSP00000465347.1:n.-99+33531_-99+33532delinsAG
NM_007294.3:c.3791_3792delinsAG , LRG_292t1:c.3791_3792delinsAG	NP_009225.1:p.Lys1264=
NM_007297.3:c.3650_3651delinsAG	NP_009228.2:p.Lys1217=
NM_007298.3:c.788-708_788-707delinsAG	NP_009229.2:n.788-708_788-707delinsAG
NM_007299.3:c.788-708_788-707delinsAG	NP_009230.2:n.788-708_788-707delinsAG
NM_007300.3:c.3791_3792delinsAG	NP_009231.2:p.Lys1264=
NR_027676.1:n.3927_3928delinsAG
NM_007294.4:c.3791_3792delinsAG MANE Select	NP_009225.1:p.Lys1264=
NM_007297.4:c.3650_3651delinsAG	NP_009228.2:p.Lys1217=
NM_007299.4:c.788-708_788-707delinsAG	NP_009230.2:n.788-708_788-707delinsAG
NM_007300.4:c.3791_3792delinsAG	NP_009231.2:p.Lys1264=
NR_027676.2:n.3968_3969delinsAG