Canonical Allele Identifier: CA2466520912

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906778_153906790delinsTTCCTGGGGCTGG , CM000685.2:g.153906778_153906790delinsTTCCTGGGGCTGG	GRCh38
NC_000023.10:g.153172232_153172244delinsTTCCTGGGGCTGG , CM000685.1:g.153172232_153172244delinsTTCCTGGGGCTGG	GRCh37
NC_000023.9:g.152825426_152825438delinsTTCCTGGGGCTGG	NCBI36
NG_008687.1:g.6805_6817delinsTTCCTGGGGCTGG
NG_009645.3:g.7434_7446delinsCCAGCCCCAGGAA
NG_013220.1:g.24471_24483delinsCCAGCCCCAGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*50_*62delinsTTCCTGGGGCTGG (AVPR2) MANE Select	ENSP00000496396.1:n.*50_*62delinsTTCCTGGGGCTGG
ENST00000434679.6:c.*532_*544delinsTTCCTGGGGCTGG (AVPR2)	ENSP00000393397.1:n.*532_*544delinsTTCCTGGGGCTGG
ENST00000642393.1:c.97+2280_97+2292delinsCCAGCCCCAGGAA
ENST00000646191.1:c.97+2280_97+2292delinsCCAGCCCCAGGAA
ENST00000646375.1:c.*50_*62delinsTTCCTGGGGCTGG (AVPR2)	ENSP00000496396.1:n.*50_*62delinsTTCCTGGGGCTGG
ENST00000337474.5:c.*50_*62delinsTTCCTGGGGCTGG (AVPR2)	ENSP00000338072.5:n.*50_*62delinsTTCCTGGGGCTGG
ENST00000358927.6:c.*50_*62delinsTTCCTGGGGCTGG (AVPR2)	ENSP00000351805.2:n.*50_*62delinsTTCCTGGGGCTGG
ENST00000430697.1:c.1078_1090delinsTTCCTGGGGCTGG (AVPR2)	ENSP00000393513.1:p.Phe360=
ENST00000434679.5:c.*532_*544delinsTTCCTGGGGCTGG (AVPR2)	ENSP00000393397.1:n.*532_*544delinsTTCCTGGGGCTGG
ENST00000464967.5:n.154+2280_154+2292delinsCCAGCCCCAGGAA (L1CAM)
NM_000054.4:c.*50_*62delinsTTCCTGGGGCTGG (AVPR2)	NP_000045.1:n.*50_*62delinsTTCCTGGGGCTGG
NM_001146151.1:c.*342_*354delinsTTCCTGGGGCTGG (AVPR2)	NP_001139623.1:n.*342_*354delinsTTCCTGGGGCTGG
NR_027419.1:n.1213_1225delinsTTCCTGGGGCTGG (AVPR2)
XM_006724828.2:c.*50_*62delinsTTCCTGGGGCTGG (AVPR2)	XP_006724891.1:n.*50_*62delinsTTCCTGGGGCTGG
NM_000054.5:c.*50_*62delinsTTCCTGGGGCTGG (AVPR2)	NP_000045.1:n.*50_*62delinsTTCCTGGGGCTGG
NM_001146151.2:c.*342_*354delinsTTCCTGGGGCTGG (AVPR2)	NP_001139623.1:n.*342_*354delinsTTCCTGGGGCTGG
XM_006724828.3:c.*50_*62delinsTTCCTGGGGCTGG (AVPR2)	XP_006724891.1:n.*50_*62delinsTTCCTGGGGCTGG
NM_000054.6:c.*50_*62delinsTTCCTGGGGCTGG (AVPR2)	NP_000045.1:n.*50_*62delinsTTCCTGGGGCTGG
NM_001146151.3:c.*342_*354delinsTTCCTGGGGCTGG (AVPR2)	NP_001139623.1:n.*342_*354delinsTTCCTGGGGCTGG
NR_027419.2:n.1119_1131delinsTTCCTGGGGCTGG (AVPR2)
NM_000054.7:c.*50_*62delinsTTCCTGGGGCTGG (AVPR2) MANE Select	NP_000045.1:n.*50_*62delinsTTCCTGGGGCTGG