Canonical Allele Identifier: CA948470443
Gene: AVPR1A HGNC NCBI

Linked Data

dbSNP Id: rs1868367601
gnomAD v3: 12-63146975-CTT-C
gnomAD v4: 12-63146975-CTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146977_63146978del , CM000674.2:g.63146977_63146978del GRCh38
NC_000012.11:g.63540757_63540758del , CM000674.1:g.63540757_63540758del GRCh37
NC_000012.10:g.61827024_61827025del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*382_*383del MANE Select ENSP00000299178.3:n.*382_*383del
ENST00000299178.3:c.*382_*383del ENSP00000299178.2:n.*382_*383del
ENST00000550940.1:c.538+444_538+445del ENSP00000449822.1:n.538+444_538+445del
NM_000706.4:c.*382_*383del NP_000697.1:n.*382_*383del
XM_005269002.3:c.*382_*383del XP_005269059.1:n.*382_*383del
NM_000706.5:c.*382_*383del MANE Select NP_000697.1:n.*382_*383del
Search 100 bp 5'
Search 100 bp 3'