Canonical Allele Identifier: CA2695229219
Gene: AVP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3084625_3084627del , CM000682.2:g.3084625_3084627del GRCh38
NC_000020.10:g.3065271_3065273del , CM000682.1:g.3065271_3065273del GRCh37
NC_000020.9:g.3013271_3013273del NCBI36
NG_008663.1:g.5102_5104del , LRG_715:g.5102_5104del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.52_54del MANE Select ENSP00000369647.3:p.Ser18del
NM_000490.4:c.52_54del , LRG_715t1:c.52_54del NP_000481.2:p.Ser18del
XM_011529267.1:c.52_54del XP_011527569.1:p.Ser18del
XM_011529267.2:c.52_54del XP_011527569.1:p.Ser18del
NM_000490.5:c.52_54del MANE Select NP_000481.2:p.Ser18del