Canonical Allele Identifier: CA6452233
Gene: PRB3 HGNC NCBI

Linked Data

ExAC: 12:11420988 GCCTCCTTGTGGGGGTCGTCCTTCTGGCTTTCCTGGAGGAGGTGGGGTACGTTGGGGCTGGTTT / G
gnomAD v2: 12-11420988-GCCTCCTTGTGGGGGTCGTCCTTCTGGCTTTCCTGGAGGAGGTGGGGTACGTTGGGGCTGGTTT-G
gnomAD v4: 12-11268054-GCCTCCTTGTGGGGGTCGTCCTTCTGGCTTTCCTGGAGGAGGTGGGGTACGTTGGGGCTGGTTT-G
MyVariant Identifiers: chr12:g.11420989_11421051del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.11268067_11268129del , CM000674.2:g.11268067_11268129del GRCh38
NC_000012.11:g.11421001_11421063del , CM000674.1:g.11421001_11421063del GRCh37
NC_000012.10:g.11312268_11312330del NCBI36
NG_013305.2:g.6591_6653del

Transcript Alleles

HGVS Amino-acid Change
ENST00000538488.3:c.132_194del MANE Select ENSP00000442626.2:p.Asn45_Gly65del
ENST00000381842.7:c.132_194del ENSP00000371264.3:p.Asn45_Gly65del
ENST00000538488.2:c.132_194del ENSP00000442626.2:p.Asn45_Gly65del
ENST00000539835.1:n.139_201del
NM_006249.5:c.132_194del NP_006240.4:p.Asn45_Gly65del
NM_001394862.1:c.132_194del MANE Select NP_001381791.1:p.Asn45_Gly65del
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