Canonical Allele Identifier: CA923732866

Gene: BCORP1

Linked Data

• dbSNP Id: rs2045063424
• gnomAD v3: Y-19482207-GAGA-G
• gnomAD v4: Y-19482207-GAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19482210_19482212del , CM000686.2:g.19482210_19482212del	GRCh38
NC_000024.9:g.21644096_21644098del , CM000686.1:g.21644096_21644098del	GRCh37
NC_000024.8:g.20103484_20103486del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650676.1:n.112-1916_112-1914del
ENST00000400605.5:n.106-1916_106-1914del
ENST00000441139.5:n.123-1916_123-1914del
ENST00000513194.1:n.2675_2677del
NR_002923.2:n.123-1916_123-1914del
NR_033732.1:n.123-1916_123-1914del