Canonical Allele Identifier: CA2466520558

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905836_153905838delinsCCT , CM000685.2:g.153905836_153905838delinsCCT	GRCh38
NC_000023.10:g.153171290_153171292delinsCCT , CM000685.1:g.153171290_153171292delinsCCT	GRCh37
NC_000023.9:g.152824484_152824486delinsCCT	NCBI36
NG_008687.1:g.5863_5865delinsCCT
NG_009645.3:g.8386_8388delinsAGG
NG_013220.1:g.25423_25425delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.330_332delinsCCT (AVPR2) MANE Select	ENSP00000496396.1:p.Ala110=
ENST00000434679.6:c.26-183_26-181delinsCCT (AVPR2)	ENSP00000393397.1:n.26-183_26-181delinsCCT
ENST00000642393.1:c.97+3232_97+3234delinsAGG
ENST00000646191.1:c.97+3232_97+3234delinsAGG
ENST00000646375.1:c.330_332delinsCCT (AVPR2)	ENSP00000496396.1:p.Ala110=
ENST00000337474.5:c.330_332delinsCCT (AVPR2)	ENSP00000338072.5:p.Ala110=
ENST00000358927.6:c.330_332delinsCCT (AVPR2)	ENSP00000351805.2:p.Ala110=
ENST00000370049.1:c.330_332delinsCCT (AVPR2)	ENSP00000359066.1:p.Ala110=
ENST00000430697.1:c.330_332delinsCCT (AVPR2)	ENSP00000393513.1:p.Ala110=
ENST00000434679.5:c.26-183_26-181delinsCCT (AVPR2)	ENSP00000393397.1:n.26-183_26-181delinsCCT
ENST00000464967.5:n.154+3232_154+3234delinsAGG (L1CAM)
NM_000054.4:c.330_332delinsCCT (AVPR2)	NP_000045.1:p.Ala110=
NM_001146151.1:c.330_332delinsCCT (AVPR2)	NP_001139623.1:p.Ala110=
NR_027419.1:n.560-183_560-181delinsCCT (AVPR2)
XM_006724828.2:c.330_332delinsCCT (AVPR2)	XP_006724891.1:p.Ala110=
NM_000054.5:c.330_332delinsCCT (AVPR2)	NP_000045.1:p.Ala110=
NM_001146151.2:c.330_332delinsCCT (AVPR2)	NP_001139623.1:p.Ala110=
XM_006724828.3:c.330_332delinsCCT (AVPR2)	XP_006724891.1:p.Ala110=
NM_000054.6:c.330_332delinsCCT (AVPR2)	NP_000045.1:p.Ala110=
NM_001146151.3:c.330_332delinsCCT (AVPR2)	NP_001139623.1:p.Ala110=
NR_027419.2:n.466-183_466-181delinsCCT (AVPR2)
NM_000054.7:c.330_332delinsCCT (AVPR2) MANE Select	NP_000045.1:p.Ala110=