Canonical Allele Identifier: CA3273043707
Community Standard Title: NM_007294.4(BRCA1):c.110_111delinsAG (p.Thr37Lys)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43115749_43115750delinsCT , CM000679.2:g.43115749_43115750delinsCT GRCh38
NC_000017.10:g.41267766_41267767delinsCT , CM000679.1:g.41267766_41267767delinsCT GRCh37
NC_000017.9:g.38521292_38521293delinsCT NCBI36
NG_005905.2:g.102234_102235delinsAG , LRG_292:g.102234_102235delinsAG

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.110_111delinsAG MANE Select NP_009225.1:p.Thr37Lys
ENST00000357654.9:c.110_111delinsAG MANE Select ENSP00000350283.3:p.Thr37Lys
NM_007294.3:c.110_111delinsAG , LRG_292t1:c.110_111delinsAG NP_009225.1:p.Thr37Lys
NM_007297.3:c.-8+8267_-8+8268delinsAG NP_009228.2:n.-8+8267_-8+8268delinsAG
NM_007297.4:c.-8+8267_-8+8268delinsAG NP_009228.2:n.-8+8267_-8+8268delinsAG
NM_007298.3:c.110_111delinsAG NP_009229.2:p.Thr37Lys
NM_007299.3:c.110_111delinsAG NP_009230.2:p.Thr37Lys
NM_007299.4:c.110_111delinsAG NP_009230.2:p.Thr37Lys
NM_007300.3:c.110_111delinsAG NP_009231.2:p.Thr37Lys
NM_007300.4:c.110_111delinsAG NP_009231.2:p.Thr37Lys
NR_027676.1:n.271_272delinsAG
NR_027676.2:n.312_313delinsAG
ENST00000352993.7:c.110_111delinsAG ENSP00000312236.5:p.Thr37Lys
ENST00000354071.7:c.110_111delinsAG ENSP00000326002.7:p.Thr37Lys
ENST00000354071.8:n.174_175delinsAG
ENST00000357654.7:c.110_111delinsAG ENSP00000350283.3:p.Thr37Lys
ENST00000461221.5:c.110_111delinsAG ENSP00000418548.1:p.Thr37Lys
ENST00000461574.2:c.110_111delinsAG ENSP00000417241.2:p.Thr37Lys
ENST00000461798.5:c.110_111delinsAG ENSP00000417988.1:p.Thr37Lys
ENST00000468300.5:c.110_111delinsAG ENSP00000417148.1:p.Thr37Lys
ENST00000470026.5:c.110_111delinsAG ENSP00000419274.1:p.Thr37Lys
ENST00000470026.6:c.110_111delinsAG ENSP00000419274.2:p.Thr37Lys
ENST00000471181.6:c.110_111delinsAG ENSP00000418960.2:p.Thr37Lys
ENST00000471181.7:c.110_111delinsAG ENSP00000418960.2:p.Thr37Lys
ENST00000473961.6:c.110_111delinsAG ENSP00000420201.2:p.Thr37Lys
ENST00000476777.5:c.110_111delinsAG ENSP00000417554.1:p.Thr37Lys
ENST00000476777.6:c.110_111delinsAG ENSP00000417554.2:p.Thr37Lys
ENST00000477152.5:c.110_111delinsAG ENSP00000419988.1:p.Thr37Lys
ENST00000477152.6:c.110_111delinsAG ENSP00000419988.2:p.Thr37Lys
ENST00000478531.5:c.110_111delinsAG ENSP00000420412.1:p.Thr37Lys
ENST00000478531.6:c.110_111delinsAG ENSP00000420412.2:p.Thr37Lys
ENST00000484087.6:c.110_111delinsAG ENSP00000419481.2:p.Thr37Lys
ENST00000489037.1:c.110_111delinsAG ENSP00000420781.1:p.Thr37Lys
ENST00000489037.2:c.110_111delinsAG ENSP00000420781.2:p.Thr37Lys
ENST00000491747.6:c.110_111delinsAG ENSP00000420705.2:p.Thr37Lys
ENST00000492859.5:c.110_111delinsAG ENSP00000420253.1:p.Thr37Lys
ENST00000493795.5:c.-8+8267_-8+8268delinsAG ENSP00000418775.1:n.-8+8267_-8+8268delinsAG
ENST00000493919.5:c.-8+8267_-8+8268delinsAG ENSP00000418819.1:n.-8+8267_-8+8268delinsAG
ENST00000493919.6:c.-8+8267_-8+8268delinsAG ENSP00000418819.2:n.-8+8267_-8+8268delinsAG
ENST00000494123.5:c.110_111delinsAG ENSP00000419103.1:p.Thr37Lys
ENST00000494123.6:c.110_111delinsAG ENSP00000419103.2:p.Thr37Lys
ENST00000497488.1:c.-219+9521_-219+9522delinsAG ENSP00000418986.1:n.-219+9521_-219+9522delinsAG
ENST00000497488.2:c.-219+9521_-219+9522delinsAG ENSP00000418986.2:n.-219+9521_-219+9522delinsAG
ENST00000586385.5:c.4+9432_4+9433delinsAG ENSP00000465818.1:n.4+9432_4+9433delinsAG
ENST00000591534.5:c.-44+9521_-44+9522delinsAG ENSP00000467329.1:n.-44+9521_-44+9522delinsAG
ENST00000591849.5:c.-99+9521_-99+9522delinsAG ENSP00000465347.1:n.-99+9521_-99+9522delinsAG
ENST00000618469.2:c.110_111delinsAG ENSP00000478114.2:p.Thr37Lys
ENST00000634433.1:c.110_111delinsAG ENSP00000489431.1:p.Thr37Lys
ENST00000634433.2:c.110_111delinsAG ENSP00000489431.2:p.Thr37Lys
ENST00000642945.1:c.110_111delinsAG ENSP00000495897.1:p.Thr37Lys
ENST00000644379.2:c.110_111delinsAG ENSP00000496570.2:p.Thr37Lys
ENST00000644555.1:c.-32_-31delinsAG ENSP00000494614.1:n.-32_-31delinsAG
ENST00000644555.2:c.-32_-31delinsAG ENSP00000494614.2:n.-32_-31delinsAG
ENST00000652672.1:c.-32_-31delinsAG ENSP00000498906.1:n.-32_-31delinsAG
ENST00000652672.2:c.-32_-31delinsAG ENSP00000498906.2:n.-32_-31delinsAG
ENST00000700182.1:c.110_111delinsAG ENSP00000514849.1:p.Thr37Lys
ENST00000700183.1:c.110_111delinsAG ENSP00000514850.1:p.Thr37Lys
ENST00000700184.1:n.353_354delinsAG
ENST00000700185.1:n.229_230delinsAG