Canonical Allele Identifier: CA2535842482
Gene: AVP HGNC NCBI

Linked Data

gnomAD v4: 20-3082676-GCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082685_3082726del , CM000682.2:g.3082685_3082726del GRCh38
NC_000020.10:g.3063331_3063372del , CM000682.1:g.3063331_3063372del GRCh37
NC_000020.9:g.3011331_3011372del NCBI36
NG_008663.1:g.7007_7048del , LRG_715:g.7007_7048del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.407_448del MANE Select ENSP00000369647.3:p.Asp136_Leu149del
NM_000490.4:c.407_448del , LRG_715t1:c.407_448del NP_000481.2:p.Asp136_Leu149del
XM_011529267.1:c.407_448del XP_011527569.1:p.Asp136_Leu149del
XM_011529267.2:c.407_448del XP_011527569.1:p.Asp136_Leu149del
NM_000490.5:c.407_448del MANE Select NP_000481.2:p.Asp136_Leu149del
Search 100 bp 5'
Search 100 bp 3'