Canonical Allele Identifier: CA6452206

Gene: PRB3

Linked Data

• dbSNP Id: rs773771040
• ExAC: 12:11420910 ACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGG / A
• gnomAD v2: 12-11420910-ACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGG-A
• gnomAD v4: 12-11267976-ACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGG-A
• MyVariant Identifiers: chr12:g.11420911_11420942del (hg19) ; chr12:g.11267977_11268008del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11267977_11268008del , CM000674.2:g.11267977_11268008del	GRCh38
NC_000012.11:g.11420911_11420942del , CM000674.1:g.11420911_11420942del	GRCh37
NC_000012.10:g.11312178_11312209del	NCBI36
NG_013305.2:g.6700_6731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000538488.3:c.241_272del MANE Select	ENSP00000442626.2:p.Pro81SerfsTer?
ENST00000381842.7:c.241_272del	ENSP00000371264.3:p.Pro81SerfsTer?
ENST00000538488.2:c.241_272del	ENSP00000442626.2:p.Pro81SerfsTer?
ENST00000539835.1:n.248_279del
NM_006249.5:c.241_272del	NP_006240.4:p.Pro81SerfsTer?
NM_001394862.1:c.241_272del MANE Select	NP_001381791.1:p.Pro81SerfsTer?