Canonical Allele Identifier: CA605604849
Gene: AVPR1A HGNC NCBI

Linked Data

dbSNP Id: rs1458445392
gnomAD v2: 12-63540705-CAT-C
gnomAD v3: 12-63146925-CAT-C
gnomAD v4: 12-63146925-CAT-C
MyVariant Identifiers: chr12:g.63540706_63540707del (hg19) chr12:g.63146926_63146927del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146927_63146928del , CM000674.2:g.63146927_63146928del GRCh38
NC_000012.11:g.63540707_63540708del , CM000674.1:g.63540707_63540708del GRCh37
NC_000012.10:g.61826974_61826975del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*432_*433del MANE Select ENSP00000299178.3:n.*432_*433del
ENST00000299178.3:c.*432_*433del ENSP00000299178.2:n.*432_*433del
ENST00000550940.1:c.538+494_538+495del ENSP00000449822.1:n.538+494_538+495del
NM_000706.4:c.*432_*433del NP_000697.1:n.*432_*433del
XM_005269002.3:c.*432_*433del XP_005269059.1:n.*432_*433del
NM_000706.5:c.*432_*433del MANE Select NP_000697.1:n.*432_*433del
Search 100 bp 5'
Search 100 bp 3'