Canonical Allele Identifier: CA6452231
Gene: PRB3 HGNC NCBI

Linked Data

ExAC: 12:11420981 ACTGGTTGCCTCCTTGTGGGGGTCGTCCTTCTGGCTTTCCTGGAGGAGGTGGGGTACGTTGGGG / A
gnomAD v4: 12-11268047-ACTGGTTGCCTCCTTGTGGGGGTCGTCCTTCTGGCTTTCCTGGAGGAGGTGGGGTACGTTGGGG-A
MyVariant Identifiers: chr12:g.11420982_11421044del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.11268054_11268116del , CM000674.2:g.11268054_11268116del GRCh38
NC_000012.11:g.11420988_11421050del , CM000674.1:g.11420988_11421050del GRCh37
NC_000012.10:g.11312255_11312317del NCBI36
NG_013305.2:g.6598_6660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000538488.3:c.139_201del MANE Select ENSP00000442626.2:p.Pro47_Gln67del
ENST00000381842.7:c.139_201del ENSP00000371264.3:p.Pro47_Gln67del
ENST00000538488.2:c.139_201del ENSP00000442626.2:p.Pro47_Gln67del
ENST00000539835.1:n.146_208del
NM_006249.5:c.139_201del NP_006240.4:p.Pro47_Gln67del
NM_001394862.1:c.139_201del MANE Select NP_001381791.1:p.Pro47_Gln67del
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