Canonical Allele Identifier: CA2617663930
Gene: PRB3 HGNC NCBI

Linked Data

gnomAD v4: 12-11267865-TCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTTGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.11267881_11268069del , CM000674.2:g.11267881_11268069del GRCh38
NC_000012.11:g.11420815_11421003del , CM000674.1:g.11420815_11421003del GRCh37
NC_000012.10:g.11312082_11312270del NCBI36
NG_013305.2:g.6654_6842del

Transcript Alleles

HGVS Amino-acid change
ENST00000538488.3:c.195_383del MANE Select ENSP00000442626.2:p.Asn66_Gly128del
ENST00000381842.7:c.195_383del ENSP00000371264.3:p.Asn66_Gly128del
ENST00000538488.2:c.195_383del ENSP00000442626.2:p.Asn66_Gly128del
ENST00000539835.1:n.202_390del
NM_006249.5:c.195_383del NP_006240.4:p.Asn66_Gly128del
NM_001394862.1:c.195_383del MANE Select NP_001381791.1:p.Asn66_Gly128del
Search 100 bp 5'
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