Canonical Allele Identifier: CA2638060555
Gene: BRCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047800_43047806del , CM000679.2:g.43047800_43047806del GRCh38
NC_000017.10:g.41199817_41199823del , CM000679.1:g.41199817_41199823del GRCh37
NC_000017.9:g.38453343_38453349del NCBI36
NG_005905.2:g.170178_170184del , LRG_292:g.170178_170184del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5404-103_5404-97del ENSP00000417241.2:n.5404-103_5404-97del
ENST00000470026.6:c.5407-103_5407-97del ENSP00000419274.2:n.5407-103_5407-97del
ENST00000473961.6:c.5281-103_5281-97del ENSP00000420201.2:n.5281-103_5281-97del
ENST00000476777.6:c.5401-103_5401-97del ENSP00000417554.2:n.5401-103_5401-97del
ENST00000477152.6:c.5329-103_5329-97del ENSP00000419988.2:n.5329-103_5329-97del
ENST00000478531.6:c.2095-103_2095-97del ENSP00000420412.2:n.2095-103_2095-97del
ENST00000489037.2:c.5329-103_5329-97del ENSP00000420781.2:n.5329-103_5329-97del
ENST00000493919.6:c.1957-103_1957-97del ENSP00000418819.2:n.1957-103_1957-97del
ENST00000494123.6:c.5407-103_5407-97del ENSP00000419103.2:n.5407-103_5407-97del
ENST00000497488.2:c.4519-103_4519-97del ENSP00000418986.2:n.4519-103_4519-97del
ENST00000618469.2:c.5407-103_5407-97del ENSP00000478114.2:n.5407-103_5407-97del
ENST00000634433.2:c.5284-103_5284-97del ENSP00000489431.2:n.5284-103_5284-97del
ENST00000644379.2:c.5473-103_5473-97del ENSP00000496570.2:n.5473-103_5473-97del
ENST00000644555.2:c.1957-103_1957-97del ENSP00000494614.2:n.1957-103_1957-97del
ENST00000652672.2:c.5266-103_5266-97del ENSP00000498906.2:n.5266-103_5266-97del
ENST00000484087.6:c.1969-103_1969-97del ENSP00000419481.2:n.1969-103_1969-97del
ENST00000700081.1:n.1290-103_1290-97del
ENST00000700082.1:n.668_674del
ENST00000357654.9:c.5407-103_5407-97del MANE Select ENSP00000350283.3:n.5407-103_5407-97del
ENST00000471181.7:c.5470-103_5470-97del ENSP00000418960.2:n.5470-103_5470-97del
ENST00000644379.1:c.1794-103_1794-97del
ENST00000352993.7:c.1981-103_1981-97del ENSP00000312236.5:n.1981-103_1981-97del
ENST00000357654.7:c.5407-103_5407-97del ENSP00000350283.3:n.5407-103_5407-97del
ENST00000461221.5:c.*5190-103_*5190-97del ENSP00000418548.1:n.*5190-103_*5190-97del
ENST00000468300.5:c.2021-103_2021-97del ENSP00000417148.1:n.2021-103_2021-97del
ENST00000471181.6:c.5470-103_5470-97del ENSP00000418960.2:n.5470-103_5470-97del
ENST00000491747.6:c.2095-103_2095-97del ENSP00000420705.2:n.2095-103_2095-97del
ENST00000493795.5:c.5266-103_5266-97del ENSP00000418775.1:n.5266-103_5266-97del
ENST00000586385.5:c.337-103_337-97del ENSP00000465818.1:n.337-103_337-97del
ENST00000591534.5:c.880-103_880-97del ENSP00000467329.1:n.880-103_880-97del
ENST00000591849.5:c.106-103_106-97del ENSP00000465347.1:n.106-103_106-97del
NM_007294.3:c.5407-103_5407-97del , LRG_292t1:c.5407-103_5407-97del NP_009225.1:n.5407-103_5407-97del
NM_007297.3:c.5266-103_5266-97del NP_009228.2:n.5266-103_5266-97del
NM_007298.3:c.2095-103_2095-97del NP_009229.2:n.2095-103_2095-97del
NM_007299.3:c.2021-103_2021-97del NP_009230.2:n.2021-103_2021-97del
NM_007300.3:c.5470-103_5470-97del NP_009231.2:n.5470-103_5470-97del
NR_027676.1:n.5543-103_5543-97del
NM_007294.4:c.5407-103_5407-97del MANE Select NP_009225.1:n.5407-103_5407-97del
NM_007297.4:c.5266-103_5266-97del NP_009228.2:n.5266-103_5266-97del
NM_007299.4:c.2021-103_2021-97del NP_009230.2:n.2021-103_2021-97del
NM_007300.4:c.5470-103_5470-97del NP_009231.2:n.5470-103_5470-97del
NR_027676.2:n.5584-103_5584-97del