Canonical Allele Identifier: CA2695236893

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905643_153905644del , CM000685.2:g.153905643_153905644del	GRCh38
NC_000023.10:g.153171097_153171098del , CM000685.1:g.153171097_153171098del	GRCh37
NC_000023.9:g.152824291_152824292del	NCBI36
NG_008687.1:g.5670_5671del
NG_009645.3:g.8581_8582del
NG_013220.1:g.25618_25619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.137_138del (AVPR2) MANE Select	ENSP00000496396.1:p.Ile46SerfsTer?
ENST00000434679.6:c.26-376_26-375del (AVPR2)	ENSP00000393397.1:n.26-376_26-375del
ENST00000642393.1:c.97+3427_97+3428del
ENST00000646191.1:c.97+3427_97+3428del
ENST00000646375.1:c.137_138del (AVPR2)	ENSP00000496396.1:p.Ile46SerfsTer?
ENST00000337474.5:c.137_138del (AVPR2)	ENSP00000338072.5:p.Ile46SerfsTer?
ENST00000358927.6:c.137_138del (AVPR2)	ENSP00000351805.2:p.Ile46SerfsTer?
ENST00000370049.1:c.137_138del (AVPR2)	ENSP00000359066.1:p.Ile46SerfsTer?
ENST00000430697.1:c.137_138del (AVPR2)	ENSP00000393513.1:p.Ile46SerfsTer?
ENST00000434679.5:c.26-376_26-375del (AVPR2)	ENSP00000393397.1:n.26-376_26-375del
ENST00000464967.5:n.154+3427_154+3428del (L1CAM)
NM_000054.4:c.137_138del (AVPR2)	NP_000045.1:p.Ile46SerfsTer?
NM_001146151.1:c.137_138del (AVPR2)	NP_001139623.1:p.Ile46SerfsTer?
NR_027419.1:n.560-376_560-375del (AVPR2)
XM_006724828.2:c.137_138del (AVPR2)	XP_006724891.1:p.Ile46SerfsTer?
NM_000054.5:c.137_138del (AVPR2)	NP_000045.1:p.Ile46SerfsTer?
NM_001146151.2:c.137_138del (AVPR2)	NP_001139623.1:p.Ile46SerfsTer?
XM_006724828.3:c.137_138del (AVPR2)	XP_006724891.1:p.Ile46SerfsTer?
NM_000054.6:c.137_138del (AVPR2)	NP_000045.1:p.Ile46SerfsTer?
NM_001146151.3:c.137_138del (AVPR2)	NP_001139623.1:p.Ile46SerfsTer?
NR_027419.2:n.466-376_466-375del (AVPR2)
NM_000054.7:c.137_138del (AVPR2) MANE Select	NP_000045.1:p.Ile46SerfsTer?