Canonical Allele Identifier: CA2260783017

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092521_43092525delinsCAAAG , CM000679.2:g.43092521_43092525delinsCAAAG	GRCh38
NC_000017.10:g.41244538_41244542delinsCAAAG , CM000679.1:g.41244538_41244542delinsCAAAG	GRCh37
NC_000017.9:g.38498064_38498068delinsCAAAG	NCBI36
NG_005905.2:g.125459_125463delinsCTTTG , LRG_292:g.125459_125463delinsCTTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3070_3074delinsCTTTG
ENST00000461574.2:c.3006_3010delinsCTTTG	ENSP00000417241.2:p.Asn1002=
ENST00000470026.6:c.3006_3010delinsCTTTG	ENSP00000419274.2:p.Asn1002=
ENST00000473961.6:c.2880_2884delinsCTTTG	ENSP00000420201.2:p.Asn960=
ENST00000476777.6:c.3003_3007delinsCTTTG	ENSP00000417554.2:p.Asn1001=
ENST00000477152.6:c.2928_2932delinsCTTTG	ENSP00000419988.2:p.Asn976=
ENST00000478531.6:c.785-1493_785-1489delinsCTTTG	ENSP00000420412.2:n.785-1493_785-1489delinsCTTTG
ENST00000489037.2:c.2928_2932delinsCTTTG	ENSP00000420781.2:p.Asn976=
ENST00000493919.6:c.647-1493_647-1489delinsCTTTG	ENSP00000418819.2:n.647-1493_647-1489delinsCTTTG
ENST00000494123.6:c.3006_3010delinsCTTTG	ENSP00000419103.2:p.Asn1002=
ENST00000497488.2:c.2118_2122delinsCTTTG	ENSP00000418986.2:p.Asn706=
ENST00000618469.2:c.3006_3010delinsCTTTG	ENSP00000478114.2:p.Asn1002=
ENST00000634433.2:c.2883_2887delinsCTTTG	ENSP00000489431.2:p.Asn961=
ENST00000644379.2:c.3006_3010delinsCTTTG	ENSP00000496570.2:p.Asn1002=
ENST00000644555.2:c.647-1493_647-1489delinsCTTTG	ENSP00000494614.2:n.647-1493_647-1489delinsCTTTG
ENST00000652672.2:c.2865_2869delinsCTTTG	ENSP00000498906.2:p.Asn955=
ENST00000484087.6:c.665-1493_665-1489delinsCTTTG	ENSP00000419481.2:n.665-1493_665-1489delinsCTTTG
ENST00000700182.1:c.707-1493_707-1489delinsCTTTG	ENSP00000514849.1:n.707-1493_707-1489delinsCTTTG
ENST00000357654.9:c.3006_3010delinsCTTTG MANE Select	ENSP00000350283.3:p.Asn1002=
ENST00000471181.7:c.3006_3010delinsCTTTG	ENSP00000418960.2:p.Asn1002=
ENST00000352993.7:c.671-1493_671-1489delinsCTTTG	ENSP00000312236.5:n.671-1493_671-1489delinsCTTTG
ENST00000354071.7:c.3006_3010delinsCTTTG	ENSP00000326002.7:p.Asn1002=
ENST00000357654.7:c.3006_3010delinsCTTTG	ENSP00000350283.3:p.Asn1002=
ENST00000461221.5:c.*2789_*2793delinsCTTTG	ENSP00000418548.1:n.*2789_*2793delinsCTTTG
ENST00000468300.5:c.788-1493_788-1489delinsCTTTG	ENSP00000417148.1:n.788-1493_788-1489delinsCTTTG
ENST00000471181.6:c.3006_3010delinsCTTTG	ENSP00000418960.2:p.Asn1002=
ENST00000478531.5:c.785-1493_785-1489delinsCTTTG	ENSP00000420412.1:n.785-1493_785-1489delinsCTTTG
ENST00000484087.5:c.410-1493_410-1489delinsCTTTG	ENSP00000419481.1:n.410-1493_410-1489delinsCTTTG
ENST00000487825.5:c.413-1493_413-1489delinsCTTTG	ENSP00000418212.1:n.413-1493_413-1489delinsCTTTG
ENST00000491747.6:c.788-1493_788-1489delinsCTTTG	ENSP00000420705.2:n.788-1493_788-1489delinsCTTTG
ENST00000493795.5:c.2865_2869delinsCTTTG	ENSP00000418775.1:p.Asn955=
ENST00000493919.5:c.647-1493_647-1489delinsCTTTG	ENSP00000418819.1:n.647-1493_647-1489delinsCTTTG
ENST00000586385.5:c.5-28574_5-28570delinsCTTTG	ENSP00000465818.1:n.5-28574_5-28570delinsCTTTG
ENST00000591534.5:c.-43-18004_-43-18000delinsCTTTG	ENSP00000467329.1:n.-43-18004_-43-18000delinsCTTTG
ENST00000591849.5:c.-99+32746_-99+32750delinsCTTTG	ENSP00000465347.1:n.-99+32746_-99+32750delinsCTTTG
NM_007294.3:c.3006_3010delinsCTTTG , LRG_292t1:c.3006_3010delinsCTTTG	NP_009225.1:p.Asn1002=
NM_007297.3:c.2865_2869delinsCTTTG	NP_009228.2:p.Asn955=
NM_007298.3:c.788-1493_788-1489delinsCTTTG	NP_009229.2:n.788-1493_788-1489delinsCTTTG
NM_007299.3:c.788-1493_788-1489delinsCTTTG	NP_009230.2:n.788-1493_788-1489delinsCTTTG
NM_007300.3:c.3006_3010delinsCTTTG	NP_009231.2:p.Asn1002=
NR_027676.1:n.3142_3146delinsCTTTG
NM_007294.4:c.3006_3010delinsCTTTG MANE Select	NP_009225.1:p.Asn1002=
NM_007297.4:c.2865_2869delinsCTTTG	NP_009228.2:p.Asn955=
NM_007299.4:c.788-1493_788-1489delinsCTTTG	NP_009230.2:n.788-1493_788-1489delinsCTTTG
NM_007300.4:c.3006_3010delinsCTTTG	NP_009231.2:p.Asn1002=
NR_027676.2:n.3183_3187delinsCTTTG