Canonical Allele Identifier: CA634328978
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs1375005485
gnomAD v2: 20-3063544-CA-C
gnomAD v3: 20-3082898-CA-C
gnomAD v4: 20-3082898-CA-C
MyVariant Identifiers: chr20:g.3063545del (hg19) chr20:g.3082899del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082899del , CM000682.2:g.3082899del GRCh38
NC_000020.10:g.3063545del , CM000682.1:g.3063545del GRCh37
NC_000020.9:g.3011545del NCBI36
NG_008663.1:g.6826del , LRG_715:g.6826del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.322+78del MANE Select ENSP00000369647.3:n.322+78del
NM_000490.4:c.322+78del , LRG_715t1:c.322+78del NP_000481.2:n.322+78del
XM_011529267.1:c.322+78del XP_011527569.1:n.322+78del
XM_011529267.2:c.322+78del XP_011527569.1:n.322+78del
NM_000490.5:c.322+78del MANE Select NP_000481.2:n.322+78del
Search 100 bp 5'
Search 100 bp 3'