Canonical Allele Identifier: CA634168087
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs1431295302
gnomAD v2: 20-3063295-GC-G
gnomAD v4: 20-3082649-GC-G
MyVariant Identifiers: chr20:g.3063296del (hg19) chr20:g.3082650del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082650del , CM000682.2:g.3082650del GRCh38
NC_000020.10:g.3063296del , CM000682.1:g.3063296del GRCh37
NC_000020.9:g.3011296del NCBI36
NG_008663.1:g.7075del , LRG_715:g.7075del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.475del MANE Select ENSP00000369647.3:p.Ala159ProfsTer?
NM_000490.4:c.475del , LRG_715t1:c.475del NP_000481.2:p.Ala159ProfsTer?
XM_011529267.1:c.475del XP_011527569.1:p.Ala159ProfsTer?
XM_011529267.2:c.475del XP_011527569.1:p.Ala159ProfsTer?
NM_000490.5:c.475del MANE Select NP_000481.2:p.Ala159ProfsTer?
Search 100 bp 5'
Search 100 bp 3'