Canonical Allele Identifier: CA2589318796
Gene: BCORP1 HGNC NCBI

Linked Data

gnomAD v3: Y-19475869-TTG-T
gnomAD v4: Y-19475869-TTG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19475874_19475875del , CM000686.2:g.19475874_19475875del GRCh38
NC_000024.9:g.21637760_21637761del , CM000686.1:g.21637760_21637761del GRCh37
NC_000024.8:g.20097148_20097149del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650676.1:n.238-968_238-967del
ENST00000400605.5:n.232-968_232-967del
ENST00000441139.5:n.249-968_249-967del
ENST00000513194.1:n.3397-973_3397-972del
NR_002923.2:n.249-968_249-967del
NR_033732.1:n.249-968_249-967del
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