Canonical Allele Identifier: CA2693383132
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308140-CTGCCCGA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308144_30308150del , CM000685.2:g.30308144_30308150del GRCh38
NC_000023.10:g.30326261_30326267del , CM000685.1:g.30326261_30326267del GRCh37
NC_000023.9:g.30236182_30236188del NCBI36
NG_009814.1:g.6232_6238del

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.1168+49_1168+55del MANE Select ENSP00000368253.4:n.1168+49_1168+55del
ENST00000378963.1:c.283+49_283+55del ENSP00000368246.1:n.283+49_283+55del
ENST00000378970.4:c.1168+49_1168+55del ENSP00000368253.4:n.1168+49_1168+55del
NM_000475.4:c.1168+49_1168+55del NP_000466.2:n.1168+49_1168+55del
NM_000475.5:c.1168+49_1168+55del MANE Select NP_000466.2:n.1168+49_1168+55del
Search 100 bp 5'
Search 100 bp 3'