Canonical Allele Identifier: CA2589319356
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs2124155940
gnomAD v3: Y-19562756-TCTC-T
gnomAD v4: Y-19562756-TCTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19562757_19562759del , CM000686.2:g.19562757_19562759del GRCh38
NC_000024.9:g.21724643_21724645del , CM000686.1:g.21724643_21724645del GRCh37
NC_000024.8:g.20184031_20184033del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000693243.1:n.26+4223_26+4225del
ENST00000650676.1:n.111+4223_111+4225del
ENST00000651484.1:n.70+4223_70+4225del
XR_938626.1:n.796_798del
XR_938627.1:n.796_798del
XR_938628.1:n.270+4223_270+4225del
XR_938629.1:n.796_798del
XR_001756064.2:n.198+4223_198+4225del
XR_001756065.1:n.198+4223_198+4225del
XR_001756066.1:n.199-3340_199-3338del
XR_938626.2:n.1192_1194del
XR_938627.2:n.1192_1194del
XR_938628.3:n.198+4223_198+4225del
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