Canonical Allele Identifier: CA2499224610

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1048853
• ClinVar RCV Id: RCV001354188
• dbSNP Id: rs2154548547

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43104119_43104428del , CM000679.2:g.43104119_43104428del	GRCh38
NC_000017.10:g.41256136_41256445del , CM000679.1:g.41256136_41256445del	GRCh37
NC_000017.9:g.38509662_38509971del	NCBI36
NG_005905.2:g.113556_113865del , LRG_292:g.113556_113865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.366-167_505+3del
ENST00000461574.2:c.302-167_441+3del
ENST00000470026.6:c.302-167_441+3del
ENST00000473961.6:c.302-167_441+3del
ENST00000476777.6:c.302-167_441+3del
ENST00000477152.6:c.224-167_363+3del
ENST00000478531.6:c.302-167_441+3del
ENST00000489037.2:c.224-167_363+3del
ENST00000493919.6:c.161-167_300+3del
ENST00000494123.6:c.302-167_441+3del
ENST00000497488.2:c.-218-9568_-218-9259del	ENSP00000418986.2:n.-218-9568_-218-9259del
ENST00000618469.2:c.302-167_441+3del
ENST00000634433.2:c.302-167_441+3del
ENST00000644379.2:c.302-167_441+3del
ENST00000644555.2:c.161-167_300+3del
ENST00000652672.2:c.161-167_300+3del
ENST00000484087.6:c.302-167_441+3del
ENST00000700182.1:c.224-167_363+3del
ENST00000700183.1:c.*216-167_*355+3del
ENST00000700184.1:n.545-167_684+3del
ENST00000357654.9:c.302-167_441+3del
ENST00000471181.7:c.302-167_441+3del
ENST00000642945.1:c.*176-167_*315+3del
ENST00000652672.1:c.161-167_300+3del
ENST00000352993.7:c.302-167_441+3del
ENST00000354071.7:c.302-167_441+3del
ENST00000357654.7:c.302-167_441+3del
ENST00000461221.5:c.*88-167_*227+3del
ENST00000461798.5:c.*88-167_*227+3del
ENST00000468300.5:c.302-167_441+3del
ENST00000470026.5:c.302-167_441+3del
ENST00000471181.6:c.302-167_441+3del
ENST00000473961.5:c.25-167_164+3del
ENST00000476777.5:c.302-167_441+3del
ENST00000477152.5:c.224-167_363+3del
ENST00000478531.5:c.302-167_441+3del
ENST00000484087.5:c.50-167_189+3del
ENST00000487825.5:c.50-167_189+3del
ENST00000491747.6:c.302-167_441+3del
ENST00000492859.5:c.*238-167_*377+3del
ENST00000493795.5:c.161-167_300+3del
ENST00000493919.5:c.161-167_300+3del
ENST00000494123.5:c.302-167_441+3del
ENST00000497488.1:c.-218-9568_-218-9259del	ENSP00000418986.1:n.-218-9568_-218-9259del
ENST00000586385.5:c.4+20754_4+21063del	ENSP00000465818.1:n.4+20754_4+21063del
ENST00000591534.5:c.-44+20843_-44+21152del	ENSP00000467329.1:n.-44+20843_-44+21152del
ENST00000591849.5:c.-99+20843_-99+21152del	ENSP00000465347.1:n.-99+20843_-99+21152del
ENST00000634433.1:c.302-167_441+3del
NM_007294.3:c.302-167_441+3del , LRG_292t1:c.302-167_441+3del
NM_007297.3:c.161-167_300+3del
NM_007298.3:c.302-167_441+3del
NM_007299.3:c.302-167_441+3del
NM_007300.3:c.302-167_441+3del
NR_027676.1:n.441-167_580+3del
NM_007294.4:c.302-167_441+3del
NM_007297.4:c.161-167_300+3del
NM_007299.4:c.302-167_441+3del
NM_007300.4:c.302-167_441+3del
NR_027676.2:n.482-167_621+3del