Canonical Allele Identifier: CA658683036

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 10848
• ClinVar RCV Id: RCV000011595
• dbSNP Id: rs1569545523
• MyVariant Identifiers: chrX:g.153171062del (hg19) ; chrX:g.153905608del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905608del , CM000685.2:g.153905608del	GRCh38
NC_000023.10:g.153171062del , CM000685.1:g.153171062del	GRCh37
NC_000023.9:g.152824256del	NCBI36
NG_008687.1:g.5635del
NG_009645.3:g.8616del
NG_013220.1:g.25653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.102del (AVPR2) MANE Select	ENSP00000496396.1:p.Leu35CysfsTer2
ENST00000434679.6:c.26-411del (AVPR2)	ENSP00000393397.1:n.26-411del
ENST00000642393.1:c.97+3462del
ENST00000646191.1:c.97+3462del
ENST00000646375.1:c.102del (AVPR2)	ENSP00000496396.1:p.Leu35CysfsTer2
ENST00000337474.5:c.102del (AVPR2)	ENSP00000338072.5:p.Leu35CysfsTer2
ENST00000358927.6:c.102del (AVPR2)	ENSP00000351805.2:p.Leu35CysfsTer2
ENST00000370049.1:c.102del (AVPR2)	ENSP00000359066.1:p.Leu35CysfsTer2
ENST00000430697.1:c.102del (AVPR2)	ENSP00000393513.1:p.Leu35CysfsTer2
ENST00000434679.5:c.26-411del (AVPR2)	ENSP00000393397.1:n.26-411del
ENST00000464967.5:n.154+3462del (L1CAM)
NM_000054.4:c.102del (AVPR2)	NP_000045.1:p.Leu35CysfsTer2
NM_001146151.1:c.102del (AVPR2)	NP_001139623.1:p.Leu35CysfsTer2
NR_027419.1:n.560-411del (AVPR2)
XM_006724828.2:c.102del (AVPR2)	XP_006724891.1:p.Leu35CysfsTer2
NM_000054.5:c.102del (AVPR2)	NP_000045.1:p.Leu35CysfsTer2
NM_001146151.2:c.102del (AVPR2)	NP_001139623.1:p.Leu35CysfsTer2
XM_006724828.3:c.102del (AVPR2)	XP_006724891.1:p.Leu35CysfsTer2
NM_000054.6:c.102del (AVPR2)	NP_000045.1:p.Leu35CysfsTer2
NM_001146151.3:c.102del (AVPR2)	NP_001139623.1:p.Leu35CysfsTer2
NR_027419.2:n.466-411del (AVPR2)
NM_000054.7:c.102del (AVPR2) MANE Select	NP_000045.1:p.Leu35CysfsTer2