Canonical Allele Identifier: CA2473134705

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906624_153906626del , CM000685.2:g.153906624_153906626del	GRCh38
NC_000023.10:g.153172078_153172080del , CM000685.1:g.153172078_153172080del	GRCh37
NC_000023.9:g.152825272_152825274del	NCBI36
NG_008687.1:g.6651_6653del
NG_009645.3:g.7598_7600del
NG_013220.1:g.24635_24637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.1012_1014del (AVPR2) MANE Select	ENSP00000496396.1:p.Ser338del
ENST00000434679.6:c.*378_*380del (AVPR2)	ENSP00000393397.1:n.*378_*380del
ENST00000642393.1:c.97+2444_97+2446del
ENST00000646191.1:c.97+2444_97+2446del
ENST00000646375.1:c.1012_1014del (AVPR2)	ENSP00000496396.1:p.Ser338del
ENST00000337474.5:c.1012_1014del (AVPR2)	ENSP00000338072.5:p.Ser338del
ENST00000358927.6:c.1012_1014del (AVPR2)	ENSP00000351805.2:p.Ser338del
ENST00000370049.1:c.*188_*190del (AVPR2)	ENSP00000359066.1:n.*188_*190del
ENST00000430697.1:c.924_926del (AVPR2)	ENSP00000393513.1:p.Glu308_Ala309delinsAsp
ENST00000434679.5:c.*378_*380del (AVPR2)	ENSP00000393397.1:n.*378_*380del
ENST00000464967.5:n.154+2444_154+2446del (L1CAM)
NM_000054.4:c.1012_1014del (AVPR2)	NP_000045.1:p.Ser338del
NM_001146151.1:c.*188_*190del (AVPR2)	NP_001139623.1:n.*188_*190del
NR_027419.1:n.1059_1061del (AVPR2)
XM_006724828.2:c.1012_1014del (AVPR2)	XP_006724891.1:p.Ser338del
NM_000054.5:c.1012_1014del (AVPR2)	NP_000045.1:p.Ser338del
NM_001146151.2:c.*188_*190del (AVPR2)	NP_001139623.1:n.*188_*190del
XM_006724828.3:c.1012_1014del (AVPR2)	XP_006724891.1:p.Ser338del
NM_000054.6:c.1012_1014del (AVPR2)	NP_000045.1:p.Ser338del
NM_001146151.3:c.*188_*190del (AVPR2)	NP_001139623.1:n.*188_*190del
NR_027419.2:n.965_967del (AVPR2)
NM_000054.7:c.1012_1014del (AVPR2) MANE Select	NP_000045.1:p.Ser338del