Canonical Allele Identifier: CA1014830620
Gene: AVP HGNC NCBI

Linked Data

gnomAD v3: 20-3082893-G-GCCCCCCC
gnomAD v4: 20-3082893-G-GCCCCCCC
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082898_3082899insCCCCCCC , CM000682.2:g.3082898_3082899insCCCCCCC GRCh38
NC_000020.10:g.3063544_3063545insCCCCCCC , CM000682.1:g.3063544_3063545insCCCCCCC GRCh37
NC_000020.9:g.3011544_3011545insCCCCCCC NCBI36
NG_008663.1:g.6831_6832insGGGGGGG , LRG_715:g.6831_6832insGGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.322+83_322+84insGGGGGGG MANE Select ENSP00000369647.3:n.322+83_322+84insGGGGGGG
NM_000490.4:c.322+83_322+84insGGGGGGG , LRG_715t1:c.322+83_322+84insGGGGGGG NP_000481.2:n.322+83_322+84insGGGGGGG
XM_011529267.1:c.322+83_322+84insGGGGGGG XP_011527569.1:n.322+83_322+84insGGGGGGG
XM_011529267.2:c.322+83_322+84insGGGGGGG XP_011527569.1:n.322+83_322+84insGGGGGGG
NM_000490.5:c.322+83_322+84insGGGGGGG MANE Select NP_000481.2:n.322+83_322+84insGGGGGGG
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