Canonical Allele Identifier: CA10554967

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905706_153905714del , CM000685.2:g.153905706_153905714del	GRCh38
NC_000023.10:g.153171160_153171168del , CM000685.1:g.153171160_153171168del	GRCh37
NC_000023.9:g.152824354_152824362del	NCBI36
NG_008687.1:g.5733_5741del
NG_009645.3:g.8520_8528del
NG_013220.1:g.25557_25565del

Transcript Alleles

HGVS	Amino-acid Change
NM_000054.7:c.200_208del (AVPR2) MANE Select	NP_000045.1:p.Arg67_Gly69del
ENST00000646375.2:c.200_208del (AVPR2) MANE Select	ENSP00000496396.1:p.Arg67_Gly69del
NM_000054.4:c.200_208del (AVPR2)	NP_000045.1:p.Arg67_Gly69del
NM_000054.5:c.200_208del (AVPR2)	NP_000045.1:p.Arg67_Gly69del
NM_000054.6:c.200_208del (AVPR2)	NP_000045.1:p.Arg67_Gly69del
NM_001146151.1:c.200_208del (AVPR2)	NP_001139623.1:p.Arg67_Gly69del
NM_001146151.2:c.200_208del (AVPR2)	NP_001139623.1:p.Arg67_Gly69del
NM_001146151.3:c.200_208del (AVPR2)	NP_001139623.1:p.Arg67_Gly69del
NR_027419.1:n.560-313_560-305del (AVPR2)
NR_027419.2:n.466-313_466-305del (AVPR2)
ENST00000337474.5:c.200_208del (AVPR2)	ENSP00000338072.5:p.Arg67_Gly69del
ENST00000358927.6:c.200_208del (AVPR2)	ENSP00000351805.2:p.Arg67_Gly69del
ENST00000370049.1:c.200_208del (AVPR2)	ENSP00000359066.1:p.Arg67_Gly69del
ENST00000430697.1:c.200_208del (AVPR2)	ENSP00000393513.1:p.Arg67_Gly69del
ENST00000434679.5:c.26-313_26-305del (AVPR2)	ENSP00000393397.1:n.26-313_26-305del
ENST00000434679.6:c.26-313_26-305del (AVPR2)	ENSP00000393397.1:n.26-313_26-305del
ENST00000464967.5:n.154+3366_154+3374del (L1CAM)
ENST00000642393.1:c.97+3366_97+3374del
ENST00000646191.1:c.97+3366_97+3374del
ENST00000646375.1:c.200_208del (AVPR2)	ENSP00000496396.1:p.Arg67_Gly69del
XM_006724828.2:c.200_208del (AVPR2)	XP_006724891.1:p.Arg67_Gly69del
XM_006724828.3:c.200_208del (AVPR2)	XP_006724891.1:p.Arg67_Gly69del