Canonical Allele Identifier: CA260168
Gene: AVPR2 HGNC NCBI
L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 35744
ClinVar RCV Id: RCV000029395 RCV002482907
dbSNP Id: rs193922118
MyVariant Identifiers: chrX:g.153171712_153171718del (hg19) chrX:g.153906258_153906264del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153906258_153906264del , CM000685.2:g.153906258_153906264del GRCh38
NC_000023.10:g.153171712_153171718del , CM000685.1:g.153171712_153171718del GRCh37
NC_000023.9:g.152824906_152824912del NCBI36
NG_008687.1:g.6285_6291del
NG_009645.3:g.7964_7970del
NG_013220.1:g.25001_25007del

Transcript Alleles

HGVS Amino-acid change
ENST00000646375.2:c.752_758del (AVPR2) MANE Select ENSP00000496396.1:p.Arg251GlnfsTer18
ENST00000434679.6:c.*118_*124del (AVPR2) ENSP00000393397.1:n.*118_*124del
ENST00000642393.1:c.97+2810_97+2816del
ENST00000646191.1:c.97+2810_97+2816del
ENST00000646375.1:c.752_758del (AVPR2) ENSP00000496396.1:p.Arg251GlnfsTer18
ENST00000337474.5:c.752_758del (AVPR2) ENSP00000338072.5:p.Arg251GlnfsTer18
ENST00000358927.6:c.752_758del (AVPR2) ENSP00000351805.2:p.Arg251GlnfsTer18
ENST00000370049.1:c.752_758del (AVPR2) ENSP00000359066.1:p.Arg251GlnfsTer18
ENST00000430697.1:c.752_758del (AVPR2) ENSP00000393513.1:p.Arg251GlnfsTer18
ENST00000434679.5:c.*118_*124del (AVPR2) ENSP00000393397.1:n.*118_*124del
ENST00000464967.5:n.154+2810_154+2816del (L1CAM)
NM_000054.4:c.752_758del (AVPR2) NP_000045.1:p.Arg251GlnfsTer18
NM_001146151.1:c.752_758del (AVPR2) NP_001139623.1:p.Arg251GlnfsTer18
NR_027419.1:n.799_805del (AVPR2)
XM_006724828.2:c.752_758del (AVPR2) XP_006724891.1:p.Arg251GlnfsTer18
NM_000054.5:c.752_758del (AVPR2) NP_000045.1:p.Arg251GlnfsTer18
NM_001146151.2:c.752_758del (AVPR2) NP_001139623.1:p.Arg251GlnfsTer18
XM_006724828.3:c.752_758del (AVPR2) XP_006724891.1:p.Arg251GlnfsTer18
NM_000054.6:c.752_758del (AVPR2) NP_000045.1:p.Arg251GlnfsTer18
NM_001146151.3:c.752_758del (AVPR2) NP_001139623.1:p.Arg251GlnfsTer18
NR_027419.2:n.705_711del (AVPR2)
NM_000054.7:c.752_758del (AVPR2) MANE Select NP_000045.1:p.Arg251GlnfsTer18
Search 100 bp 5'
Search 100 bp 3'