Canonical Allele Identifier: CA634168091
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs1270489130
gnomAD v2: 20-3063312-GGGCGC-G
gnomAD v3: 20-3082666-GGGCGC-G
gnomAD v4: 20-3082666-GGGCGC-G
MyVariant Identifiers: chr20:g.3063313_3063317del (hg19) chr20:g.3082667_3082671del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082667_3082671del , CM000682.2:g.3082667_3082671del GRCh38
NC_000020.10:g.3063313_3063317del , CM000682.1:g.3063313_3063317del GRCh37
NC_000020.9:g.3011313_3011317del NCBI36
NG_008663.1:g.7054_7058del , LRG_715:g.7054_7058del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.454_458del MANE Select ENSP00000369647.3:p.Ala152ArgfsTer?
NM_000490.4:c.454_458del , LRG_715t1:c.454_458del NP_000481.2:p.Ala152ArgfsTer?
XM_011529267.1:c.454_458del XP_011527569.1:p.Ala152ArgfsTer?
XM_011529267.2:c.454_458del XP_011527569.1:p.Ala152ArgfsTer?
NM_000490.5:c.454_458del MANE Select NP_000481.2:p.Ala152ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'