Canonical Allele Identifier: CA634168462
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs1413347125
gnomAD v2: 20-3065075-T-TCTTCCTCCCC
gnomAD v3: 20-3084429-T-TCTTCCTCCCC
gnomAD v4: 20-3084429-T-TCTTCCTCCCC
MyVariant Identifiers: chr20:g.3065075_3065076insCTTCCTCCCC (hg19) chr20:g.3084429_3084430insCTTCCTCCCC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3084431_3084440dup , CM000682.2:g.3084431_3084440dup GRCh38
NC_000020.10:g.3065077_3065086dup , CM000682.1:g.3065077_3065086dup GRCh37
NC_000020.9:g.3013077_3013086dup NCBI36
NG_008663.1:g.5286_5295dup , LRG_715:g.5286_5295dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.120+116_120+125dup MANE Select ENSP00000369647.3:n.120+116_120+125dup
NM_000490.4:c.120+116_120+125dup , LRG_715t1:c.120+116_120+125dup NP_000481.2:n.120+116_120+125dup
XM_011529267.1:c.120+116_120+125dup XP_011527569.1:n.120+116_120+125dup
XM_011529267.2:c.120+116_120+125dup XP_011527569.1:n.120+116_120+125dup
NM_000490.5:c.120+116_120+125dup MANE Select NP_000481.2:n.120+116_120+125dup
Search 100 bp 5'
Search 100 bp 3'