Canonical Allele Identifier: CA2579733584

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906817del , CM000685.2:g.153906817del	GRCh38
NC_000023.10:g.153172271del , CM000685.1:g.153172271del	GRCh37
NC_000023.9:g.152825465del	NCBI36
NG_008687.1:g.6844del
NG_009645.3:g.7409del
NG_013220.1:g.24446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*89del (AVPR2) MANE Select	ENSP00000496396.1:n.*89del
ENST00000434679.6:c.*571del (AVPR2)	ENSP00000393397.1:n.*571del
ENST00000642393.1:c.97+2255del
ENST00000646191.1:c.97+2255del
ENST00000646375.1:c.*89del (AVPR2)	ENSP00000496396.1:n.*89del
ENST00000337474.5:c.*89del (AVPR2)	ENSP00000338072.5:n.*89del
ENST00000358927.6:c.*89del (AVPR2)	ENSP00000351805.2:n.*89del
ENST00000434679.5:c.*571del (AVPR2)	ENSP00000393397.1:n.*571del
ENST00000464967.5:n.154+2255del (L1CAM)
NM_000054.4:c.*89del (AVPR2)	NP_000045.1:n.*89del
NM_001146151.1:c.*381del (AVPR2)	NP_001139623.1:n.*381del
NR_027419.1:n.1252del (AVPR2)
XM_006724828.2:c.*89del (AVPR2)	XP_006724891.1:n.*89del
NM_000054.5:c.*89del (AVPR2)	NP_000045.1:n.*89del
NM_001146151.2:c.*381del (AVPR2)	NP_001139623.1:n.*381del
XM_006724828.3:c.*89del (AVPR2)	XP_006724891.1:n.*89del
NM_000054.6:c.*89del (AVPR2)	NP_000045.1:n.*89del
NM_001146151.3:c.*381del (AVPR2)	NP_001139623.1:n.*381del
NR_027419.2:n.1158del (AVPR2)
NM_000054.7:c.*89del (AVPR2) MANE Select	NP_000045.1:n.*89del