Canonical Allele Identifier: CA2466520588

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905929_153905930delinsCT , CM000685.2:g.153905929_153905930delinsCT	GRCh38
NC_000023.10:g.153171383_153171384delinsCT , CM000685.1:g.153171383_153171384delinsCT	GRCh37
NC_000023.9:g.152824577_152824578delinsCT	NCBI36
NG_008687.1:g.5956_5957delinsCT
NG_009645.3:g.8294_8295delinsAG
NG_013220.1:g.25331_25332delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.423_424delinsCT (AVPR2) MANE Select	ENSP00000496396.1:p.Ile141=
ENST00000434679.6:c.26-90_26-89delinsCT (AVPR2)	ENSP00000393397.1:n.26-90_26-89delinsCT
ENST00000642393.1:c.97+3140_97+3141delinsAG
ENST00000646191.1:c.97+3140_97+3141delinsAG
ENST00000646375.1:c.423_424delinsCT (AVPR2)	ENSP00000496396.1:p.Ile141=
ENST00000337474.5:c.423_424delinsCT (AVPR2)	ENSP00000338072.5:p.Ile141=
ENST00000358927.6:c.423_424delinsCT (AVPR2)	ENSP00000351805.2:p.Ile141=
ENST00000370049.1:c.423_424delinsCT (AVPR2)	ENSP00000359066.1:p.Ile141=
ENST00000430697.1:c.423_424delinsCT (AVPR2)	ENSP00000393513.1:p.Ile141=
ENST00000434679.5:c.26-90_26-89delinsCT (AVPR2)	ENSP00000393397.1:n.26-90_26-89delinsCT
ENST00000464967.5:n.154+3140_154+3141delinsAG (L1CAM)
NM_000054.4:c.423_424delinsCT (AVPR2)	NP_000045.1:p.Ile141=
NM_001146151.1:c.423_424delinsCT (AVPR2)	NP_001139623.1:p.Ile141=
NR_027419.1:n.560-90_560-89delinsCT (AVPR2)
XM_006724828.2:c.423_424delinsCT (AVPR2)	XP_006724891.1:p.Ile141=
NM_000054.5:c.423_424delinsCT (AVPR2)	NP_000045.1:p.Ile141=
NM_001146151.2:c.423_424delinsCT (AVPR2)	NP_001139623.1:p.Ile141=
XM_006724828.3:c.423_424delinsCT (AVPR2)	XP_006724891.1:p.Ile141=
NM_000054.6:c.423_424delinsCT (AVPR2)	NP_000045.1:p.Ile141=
NM_001146151.3:c.423_424delinsCT (AVPR2)	NP_001139623.1:p.Ile141=
NR_027419.2:n.466-90_466-89delinsCT (AVPR2)
NM_000054.7:c.423_424delinsCT (AVPR2) MANE Select	NP_000045.1:p.Ile141=