Canonical Allele Identifier: CA415104174

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs1557100500
• MyVariant Identifiers: chrX:g.153171157_153171159del (hg19) ; chrX:g.153905704_153905706del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905704_153905706del , CM000685.2:g.153905704_153905706del	GRCh38
NC_000023.10:g.153171158_153171160del , CM000685.1:g.153171158_153171160del	GRCh37
NC_000023.9:g.152824352_152824354del	NCBI36
NG_008687.1:g.5731_5733del
NG_009645.3:g.8519_8521del
NG_013220.1:g.25556_25558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.198_200del (AVPR2) MANE Select	ENSP00000496396.1:p.Arg67del
ENST00000434679.6:c.26-315_26-313del (AVPR2)	ENSP00000393397.1:n.26-315_26-313del
ENST00000642393.1:c.97+3365_97+3367del
ENST00000646191.1:c.97+3365_97+3367del
ENST00000646375.1:c.198_200del (AVPR2)	ENSP00000496396.1:p.Arg67del
ENST00000337474.5:c.198_200del (AVPR2)	ENSP00000338072.5:p.Arg67del
ENST00000358927.6:c.198_200del (AVPR2)	ENSP00000351805.2:p.Arg67del
ENST00000370049.1:c.198_200del (AVPR2)	ENSP00000359066.1:p.Arg67del
ENST00000430697.1:c.198_200del (AVPR2)	ENSP00000393513.1:p.Arg67del
ENST00000434679.5:c.26-315_26-313del (AVPR2)	ENSP00000393397.1:n.26-315_26-313del
ENST00000464967.5:n.154+3365_154+3367del (L1CAM)
NM_000054.4:c.198_200del (AVPR2)	NP_000045.1:p.Arg67del
NM_001146151.1:c.198_200del (AVPR2)	NP_001139623.1:p.Arg67del
NR_027419.1:n.560-315_560-313del (AVPR2)
XM_006724828.2:c.198_200del (AVPR2)	XP_006724891.1:p.Arg67del
NM_000054.5:c.198_200del (AVPR2)	NP_000045.1:p.Arg67del
NM_001146151.2:c.198_200del (AVPR2)	NP_001139623.1:p.Arg67del
XM_006724828.3:c.198_200del (AVPR2)	XP_006724891.1:p.Arg67del
NM_000054.6:c.198_200del (AVPR2)	NP_000045.1:p.Arg67del
NM_001146151.3:c.198_200del (AVPR2)	NP_001139623.1:p.Arg67del
NR_027419.2:n.466-315_466-313del (AVPR2)
NM_000054.7:c.198_200del (AVPR2) MANE Select	NP_000045.1:p.Arg67del