Canonical Allele Identifier: CA2695236957

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906258_153906286del , CM000685.2:g.153906258_153906286del	GRCh38
NC_000023.10:g.153171712_153171740del , CM000685.1:g.153171712_153171740del	GRCh37
NC_000023.9:g.152824906_152824934del	NCBI36
NG_008687.1:g.6285_6313del
NG_009645.3:g.7939_7967del
NG_013220.1:g.24976_25004del

Transcript Alleles

HGVS	Amino-acid change
ENST00000646375.2:c.752_780del (AVPR2) MANE Select	ENSP00000496396.1:p.Arg251ProfsTer?
ENST00000434679.6:c.*118_*146del (AVPR2)	ENSP00000393397.1:n.*118_*146del
ENST00000642393.1:c.97+2785_97+2813del
ENST00000646191.1:c.97+2785_97+2813del
ENST00000646375.1:c.752_780del (AVPR2)	ENSP00000496396.1:p.Arg251ProfsTer?
ENST00000337474.5:c.752_780del (AVPR2)	ENSP00000338072.5:p.Arg251ProfsTer?
ENST00000358927.6:c.752_780del (AVPR2)	ENSP00000351805.2:p.Arg251ProfsTer?
ENST00000370049.1:c.752_780del (AVPR2)	ENSP00000359066.1:p.Arg251ProfsTer?
ENST00000430697.1:c.752_780del (AVPR2)	ENSP00000393513.1:p.Arg251ProfsTer?
ENST00000434679.5:c.*118_*146del (AVPR2)	ENSP00000393397.1:n.*118_*146del
ENST00000464967.5:n.154+2785_154+2813del (L1CAM)
NM_000054.4:c.752_780del (AVPR2)	NP_000045.1:p.Arg251ProfsTer?
NM_001146151.1:c.752_780del (AVPR2)	NP_001139623.1:p.Arg251ProfsTer?
NR_027419.1:n.799_827del (AVPR2)
XM_006724828.2:c.752_780del (AVPR2)	XP_006724891.1:p.Arg251ProfsTer?
NM_000054.5:c.752_780del (AVPR2)	NP_000045.1:p.Arg251ProfsTer?
NM_001146151.2:c.752_780del (AVPR2)	NP_001139623.1:p.Arg251ProfsTer?
XM_006724828.3:c.752_780del (AVPR2)	XP_006724891.1:p.Arg251ProfsTer?
NM_000054.6:c.752_780del (AVPR2)	NP_000045.1:p.Arg251ProfsTer?
NM_001146151.3:c.752_780del (AVPR2)	NP_001139623.1:p.Arg251ProfsTer?
NR_027419.2:n.705_733del (AVPR2)
NM_000054.7:c.752_780del (AVPR2) MANE Select	NP_000045.1:p.Arg251ProfsTer?