Canonical Allele Identifier: CA645509237

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 438660
• ClinVar RCV Id: RCV000505581
• dbSNP Id: rs1557100304
• MyVariant Identifiers: chrX:g.153170623del (hg19) ; chrX:g.153905169del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905169del , CM000685.2:g.153905169del	GRCh38
NC_000023.10:g.153170623del , CM000685.1:g.153170623del	GRCh37
NC_000023.9:g.152823817del	NCBI36
NG_008687.1:g.5196del
NG_009645.3:g.9056del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.24del (AVPR2) MANE Select	ENSP00000496396.1:p.Ala9LeufsTer28
ENST00000434679.6:c.24del (AVPR2)	ENSP00000393397.1:p.Ala9ProfsTer20
ENST00000642393.1:c.97+3902del
ENST00000646191.1:c.97+3902del
ENST00000646375.1:c.24del (AVPR2)	ENSP00000496396.1:p.Ala9LeufsTer28
ENST00000337474.5:c.24del (AVPR2)	ENSP00000338072.5:p.Ala9LeufsTer28
ENST00000358927.6:c.24del (AVPR2)	ENSP00000351805.2:p.Ala9LeufsTer28
ENST00000370049.1:c.24del (AVPR2)	ENSP00000359066.1:p.Ala9LeufsTer28
ENST00000430697.1:c.24del (AVPR2)	ENSP00000393513.1:p.Ala9LeufsTer28
ENST00000434679.5:c.24del (AVPR2)	ENSP00000393397.1:p.Ala9ProfsTer20
ENST00000464967.5:n.154+3902del (L1CAM)
NM_000054.4:c.24del (AVPR2)	NP_000045.1:p.Ala9LeufsTer28
NM_001146151.1:c.24del (AVPR2)	NP_001139623.1:p.Ala9LeufsTer28
NR_027419.1:n.558del (AVPR2)
XM_006724828.2:c.24del (AVPR2)	XP_006724891.1:p.Ala9LeufsTer28
NM_000054.5:c.24del (AVPR2)	NP_000045.1:p.Ala9LeufsTer28
NM_001146151.2:c.24del (AVPR2)	NP_001139623.1:p.Ala9LeufsTer28
XM_006724828.3:c.24del (AVPR2)	XP_006724891.1:p.Ala9LeufsTer28
NM_000054.6:c.24del (AVPR2)	NP_000045.1:p.Ala9LeufsTer28
NM_001146151.3:c.24del (AVPR2)	NP_001139623.1:p.Ala9LeufsTer28
NR_027419.2:n.464del (AVPR2)
NM_000054.7:c.24del (AVPR2) MANE Select	NP_000045.1:p.Ala9LeufsTer28