Canonical Allele Identifier: CA260165

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906060del , CM000685.2:g.153906060del	GRCh38
NC_000023.10:g.153171514del , CM000685.1:g.153171514del	GRCh37
NC_000023.9:g.152824708del	NCBI36
NG_008687.1:g.6087del
NG_009645.3:g.8165del
NG_013220.1:g.25202del

Transcript Alleles

HGVS	Amino-acid Change
NM_000054.7:c.554del (AVPR2) MANE Select	NP_000045.1:p.Gly185ValfsTer27
ENST00000646375.2:c.554del (AVPR2) MANE Select	ENSP00000496396.1:p.Gly185ValfsTer27
NM_000054.4:c.554del (AVPR2)	NP_000045.1:p.Gly185ValfsTer27
NM_000054.5:c.554del (AVPR2)	NP_000045.1:p.Gly185ValfsTer27
NM_000054.6:c.554del (AVPR2)	NP_000045.1:p.Gly185ValfsTer27
NM_001146151.1:c.554del (AVPR2)	NP_001139623.1:p.Gly185ValfsTer27
NM_001146151.2:c.554del (AVPR2)	NP_001139623.1:p.Gly185ValfsTer27
NM_001146151.3:c.554del (AVPR2)	NP_001139623.1:p.Gly185ValfsTer27
NR_027419.1:n.601del (AVPR2)
NR_027419.2:n.507del (AVPR2)
ENST00000337474.5:c.554del (AVPR2)	ENSP00000338072.5:p.Gly185ValfsTer27
ENST00000358927.6:c.554del (AVPR2)	ENSP00000351805.2:p.Gly185ValfsTer27
ENST00000370049.1:c.554del (AVPR2)	ENSP00000359066.1:p.Gly185ValfsTer27
ENST00000430697.1:c.554del (AVPR2)	ENSP00000393513.1:p.Gly185ValfsTer27
ENST00000434679.5:c.67del (AVPR2)	ENSP00000393397.1:p.Val23TrpfsTer6
ENST00000434679.6:c.67del (AVPR2)	ENSP00000393397.1:p.Val23TrpfsTer6
ENST00000464967.5:n.154+3011del (L1CAM)
ENST00000642393.1:c.97+3011del
ENST00000646191.1:c.97+3011del
ENST00000646375.1:c.554del (AVPR2)	ENSP00000496396.1:p.Gly185ValfsTer27
XM_006724828.2:c.554del (AVPR2)	XP_006724891.1:p.Gly185ValfsTer27
XM_006724828.3:c.554del (AVPR2)	XP_006724891.1:p.Gly185ValfsTer27