Canonical Allele Identifier: CA2466520906

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906762_153906765delinsGAGA , CM000685.2:g.153906762_153906765delinsGAGA	GRCh38
NC_000023.10:g.153172216_153172219delinsGAGA , CM000685.1:g.153172216_153172219delinsGAGA	GRCh37
NC_000023.9:g.152825410_152825413delinsGAGA	NCBI36
NG_008687.1:g.6789_6792delinsGAGA
NG_009645.3:g.7459_7462delinsTCTC
NG_013220.1:g.24496_24499delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*34_*37delinsGAGA (AVPR2) MANE Select	ENSP00000496396.1:n.*34_*37delinsGAGA
ENST00000434679.6:c.*516_*519delinsGAGA (AVPR2)	ENSP00000393397.1:n.*516_*519delinsGAGA
ENST00000642393.1:c.97+2305_97+2308delinsTCTC
ENST00000646191.1:c.97+2305_97+2308delinsTCTC
ENST00000646375.1:c.*34_*37delinsGAGA (AVPR2)	ENSP00000496396.1:n.*34_*37delinsGAGA
ENST00000337474.5:c.*34_*37delinsGAGA (AVPR2)	ENSP00000338072.5:n.*34_*37delinsGAGA
ENST00000358927.6:c.*34_*37delinsGAGA (AVPR2)	ENSP00000351805.2:n.*34_*37delinsGAGA
ENST00000370049.1:c.*326_*329delinsGAGA (AVPR2)	ENSP00000359066.1:n.*326_*329delinsGAGA
ENST00000430697.1:c.1062_1065delinsGAGA (AVPR2)	ENSP00000393513.1:p.Leu354=
ENST00000434679.5:c.*516_*519delinsGAGA (AVPR2)	ENSP00000393397.1:n.*516_*519delinsGAGA
ENST00000464967.5:n.154+2305_154+2308delinsTCTC (L1CAM)
NM_000054.4:c.*34_*37delinsGAGA (AVPR2)	NP_000045.1:n.*34_*37delinsGAGA
NM_001146151.1:c.*326_*329delinsGAGA (AVPR2)	NP_001139623.1:n.*326_*329delinsGAGA
NR_027419.1:n.1197_1200delinsGAGA (AVPR2)
XM_006724828.2:c.*34_*37delinsGAGA (AVPR2)	XP_006724891.1:n.*34_*37delinsGAGA
NM_000054.5:c.*34_*37delinsGAGA (AVPR2)	NP_000045.1:n.*34_*37delinsGAGA
NM_001146151.2:c.*326_*329delinsGAGA (AVPR2)	NP_001139623.1:n.*326_*329delinsGAGA
XM_006724828.3:c.*34_*37delinsGAGA (AVPR2)	XP_006724891.1:n.*34_*37delinsGAGA
NM_000054.6:c.*34_*37delinsGAGA (AVPR2)	NP_000045.1:n.*34_*37delinsGAGA
NM_001146151.3:c.*326_*329delinsGAGA (AVPR2)	NP_001139623.1:n.*326_*329delinsGAGA
NR_027419.2:n.1103_1106delinsGAGA (AVPR2)
NM_000054.7:c.*34_*37delinsGAGA (AVPR2) MANE Select	NP_000045.1:n.*34_*37delinsGAGA