Canonical Allele Identifier: CA9739421
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs776428607
ExAC: 20:3063388 T / TCGCTGG
gnomAD v2: 20-3063388-T-TCGCTGG
gnomAD v4: 20-3082742-T-TCGCTGG
MyVariant Identifiers: chr20:g.3063388_3063389insCGCTGG (hg19) chr20:g.3082742_3082743insCGCTGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082746_3082751dup , CM000682.2:g.3082746_3082751dup GRCh38
NC_000020.10:g.3063392_3063397dup , CM000682.1:g.3063392_3063397dup GRCh37
NC_000020.9:g.3011392_3011397dup NCBI36
NG_008663.1:g.6977_6982dup , LRG_715:g.6977_6982dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.377_382dup MANE Select ENSP00000369647.3:p.Ser127_Asp128insAlaSer
NM_000490.4:c.377_382dup , LRG_715t1:c.377_382dup NP_000481.2:p.Ser127_Asp128insAlaSer
XM_011529267.1:c.377_382dup XP_011527569.1:p.Ser127_Asp128insAlaSer
XM_011529267.2:c.377_382dup XP_011527569.1:p.Ser127_Asp128insAlaSer
NM_000490.5:c.377_382dup MANE Select NP_000481.2:p.Ser127_Asp128insAlaSer
Search 100 bp 5'
Search 100 bp 3'