Canonical Allele Identifier: CA260170
Gene: AVPR2 HGNC NCBI
L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 35746
ClinVar RCV Id: RCV000029397
dbSNP Id: rs193922120
MyVariant Identifiers: chrX:g.153171779_153171781del (hg19) chrX:g.153906325_153906327del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153906325_153906327del , CM000685.2:g.153906325_153906327del GRCh38
NC_000023.10:g.153171779_153171781del , CM000685.1:g.153171779_153171781del GRCh37
NC_000023.9:g.152824973_152824975del NCBI36
NG_008687.1:g.6352_6354del
NG_009645.3:g.7897_7899del
NG_013220.1:g.24934_24936del

Transcript Alleles

HGVS Amino-acid change
ENST00000646375.2:c.819_821del (AVPR2) MANE Select ENSP00000496396.1:p.Leu274del
ENST00000434679.6:c.*185_*187del (AVPR2) ENSP00000393397.1:n.*185_*187del
ENST00000642393.1:c.97+2743_97+2745del
ENST00000646191.1:c.97+2743_97+2745del
ENST00000646375.1:c.819_821del (AVPR2) ENSP00000496396.1:p.Leu274del
ENST00000337474.5:c.819_821del (AVPR2) ENSP00000338072.5:p.Leu274del
ENST00000358927.6:c.819_821del (AVPR2) ENSP00000351805.2:p.Leu274del
ENST00000370049.1:c.819_821del (AVPR2) ENSP00000359066.1:p.Leu274del
ENST00000430697.1:c.819_821del (AVPR2) ENSP00000393513.1:p.Leu274del
ENST00000434679.5:c.*185_*187del (AVPR2) ENSP00000393397.1:n.*185_*187del
ENST00000464967.5:n.154+2743_154+2745del (L1CAM)
NM_000054.4:c.819_821del (AVPR2) NP_000045.1:p.Leu274del
NM_001146151.1:c.819_821del (AVPR2) NP_001139623.1:p.Leu274del
NR_027419.1:n.866_868del (AVPR2)
XM_006724828.2:c.819_821del (AVPR2) XP_006724891.1:p.Leu274del
NM_000054.5:c.819_821del (AVPR2) NP_000045.1:p.Leu274del
NM_001146151.2:c.819_821del (AVPR2) NP_001139623.1:p.Leu274del
XM_006724828.3:c.819_821del (AVPR2) XP_006724891.1:p.Leu274del
NM_000054.6:c.819_821del (AVPR2) NP_000045.1:p.Leu274del
NM_001146151.3:c.819_821del (AVPR2) NP_001139623.1:p.Leu274del
NR_027419.2:n.772_774del (AVPR2)
NM_000054.7:c.819_821del (AVPR2) MANE Select NP_000045.1:p.Leu274del
Search 100 bp 5'
Search 100 bp 3'