Canonical Allele Identifier: CA10555054

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 731000
• ClinVar RCV Id: RCV000905878 ; RCV000990991 ; RCV003950656
• dbSNP Id: rs782681085
• ExAC: X:153171698 GCGCCGCAGGGGA / G
• gnomAD v2: X-153171698-GCGCCGCAGGGGA-G
• gnomAD v3: X-153906244-GCGCCGCAGGGGA-G
• gnomAD v4: X-153906244-GCGCCGCAGGGGA-G
• COSMIC: COSM231538
• MyVariant Identifiers: chrX:g.153171699_153171710del (hg19) ; chrX:g.153906246_153906257del (hg38) ; chrX:g.153906245_153906256del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906250_153906261del , CM000685.2:g.153906250_153906261del	GRCh38
NC_000023.10:g.153171704_153171715del , CM000685.1:g.153171704_153171715del	GRCh37
NC_000023.9:g.152824898_152824909del	NCBI36
NG_008687.1:g.6277_6288del
NG_009645.3:g.7968_7979del
NG_013220.1:g.25005_25016del

Transcript Alleles

HGVS	Amino-acid change
ENST00000646375.2:c.744_755del (AVPR2) MANE Select	ENSP00000496396.1:p.Arg249_Arg252del
ENST00000434679.6:c.*110_*121del (AVPR2)	ENSP00000393397.1:n.*110_*121del
ENST00000642393.1:c.97+2814_97+2825del
ENST00000646191.1:c.97+2814_97+2825del
ENST00000646375.1:c.744_755del (AVPR2)	ENSP00000496396.1:p.Arg249_Arg252del
ENST00000337474.5:c.744_755del (AVPR2)	ENSP00000338072.5:p.Arg249_Arg252del
ENST00000358927.6:c.744_755del (AVPR2)	ENSP00000351805.2:p.Arg249_Arg252del
ENST00000370049.1:c.744_755del (AVPR2)	ENSP00000359066.1:p.Arg249_Arg252del
ENST00000430697.1:c.744_755del (AVPR2)	ENSP00000393513.1:p.Arg249_Arg252del
ENST00000434679.5:c.*110_*121del (AVPR2)	ENSP00000393397.1:n.*110_*121del
ENST00000464967.5:n.154+2814_154+2825del (L1CAM)
NM_000054.4:c.744_755del (AVPR2)	NP_000045.1:p.Arg249_Arg252del
NM_001146151.1:c.744_755del (AVPR2)	NP_001139623.1:p.Arg249_Arg252del
NR_027419.1:n.791_802del (AVPR2)
XM_006724828.2:c.744_755del (AVPR2)	XP_006724891.1:p.Arg249_Arg252del
NM_000054.5:c.744_755del (AVPR2)	NP_000045.1:p.Arg249_Arg252del
NM_001146151.2:c.744_755del (AVPR2)	NP_001139623.1:p.Arg249_Arg252del
XM_006724828.3:c.744_755del (AVPR2)	XP_006724891.1:p.Arg249_Arg252del
NM_000054.6:c.744_755del (AVPR2)	NP_000045.1:p.Arg249_Arg252del
NM_001146151.3:c.744_755del (AVPR2)	NP_001139623.1:p.Arg249_Arg252del
NR_027419.2:n.697_708del (AVPR2)
NM_000054.7:c.744_755del (AVPR2) MANE Select	NP_000045.1:p.Arg249_Arg252del