Canonical Allele Identifier: CA2466520370

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905387_153905390delinsGTGT , CM000685.2:g.153905387_153905390delinsGTGT	GRCh38
NC_000023.10:g.153170841_153170844delinsGTGT , CM000685.1:g.153170841_153170844delinsGTGT	GRCh37
NC_000023.9:g.152824035_152824038delinsGTGT	NCBI36
NG_008687.1:g.5414_5417delinsGTGT
NG_009645.3:g.8834_8837delinsACAC
NG_013220.1:g.25871_25874delinsACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.26-145_26-142delinsGTGT (AVPR2) MANE Select	ENSP00000496396.1:n.26-145_26-142delinsGTGT
ENST00000434679.6:c.25+217_25+220delinsGTGT (AVPR2)	ENSP00000393397.1:n.25+217_25+220delinsGTGT
ENST00000642393.1:c.97+3680_97+3683delinsACAC
ENST00000646191.1:c.97+3680_97+3683delinsACAC
ENST00000646375.1:c.26-145_26-142delinsGTGT (AVPR2)	ENSP00000496396.1:n.26-145_26-142delinsGTGT
ENST00000337474.5:c.26-145_26-142delinsGTGT (AVPR2)	ENSP00000338072.5:n.26-145_26-142delinsGTGT
ENST00000358927.6:c.26-145_26-142delinsGTGT (AVPR2)	ENSP00000351805.2:n.26-145_26-142delinsGTGT
ENST00000370049.1:c.26-145_26-142delinsGTGT (AVPR2)	ENSP00000359066.1:n.26-145_26-142delinsGTGT
ENST00000430697.1:c.26-145_26-142delinsGTGT (AVPR2)	ENSP00000393513.1:n.26-145_26-142delinsGTGT
ENST00000434679.5:c.25+217_25+220delinsGTGT (AVPR2)	ENSP00000393397.1:n.25+217_25+220delinsGTGT
ENST00000464967.5:n.154+3680_154+3683delinsACAC (L1CAM)
NM_000054.4:c.26-145_26-142delinsGTGT (AVPR2)	NP_000045.1:n.26-145_26-142delinsGTGT
NM_001146151.1:c.26-145_26-142delinsGTGT (AVPR2)	NP_001139623.1:n.26-145_26-142delinsGTGT
NR_027419.1:n.559+217_559+220delinsGTGT (AVPR2)
XM_006724828.2:c.26-145_26-142delinsGTGT (AVPR2)	XP_006724891.1:n.26-145_26-142delinsGTGT
NM_000054.5:c.26-145_26-142delinsGTGT (AVPR2)	NP_000045.1:n.26-145_26-142delinsGTGT
NM_001146151.2:c.26-145_26-142delinsGTGT (AVPR2)	NP_001139623.1:n.26-145_26-142delinsGTGT
XM_006724828.3:c.26-145_26-142delinsGTGT (AVPR2)	XP_006724891.1:n.26-145_26-142delinsGTGT
NM_000054.6:c.26-145_26-142delinsGTGT (AVPR2)	NP_000045.1:n.26-145_26-142delinsGTGT
NM_001146151.3:c.26-145_26-142delinsGTGT (AVPR2)	NP_001139623.1:n.26-145_26-142delinsGTGT
NR_027419.2:n.465+217_465+220delinsGTGT (AVPR2)
NM_000054.7:c.26-145_26-142delinsGTGT (AVPR2) MANE Select	NP_000045.1:n.26-145_26-142delinsGTGT