Canonical Allele Identifier: CA2695073707

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906855-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906855_153906856insCC , CM000685.2:g.153906855_153906856insCC	GRCh38
NC_000023.10:g.153172309_153172310insCC , CM000685.1:g.153172309_153172310insCC	GRCh37
NC_000023.9:g.152825503_152825504insCC	NCBI36
NG_008687.1:g.6882_6883insCC
NG_009645.3:g.7368_7369insGG
NG_013220.1:g.24405_24406insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*127_*128insCC (AVPR2) MANE Select	ENSP00000496396.1:n.*127_*128insCC
ENST00000434679.6:c.*609_*610insCC (AVPR2)	ENSP00000393397.1:n.*609_*610insCC
ENST00000642393.1:c.97+2214_97+2215insGG
ENST00000646191.1:c.97+2214_97+2215insGG
ENST00000646375.1:c.*127_*128insCC (AVPR2)	ENSP00000496396.1:n.*127_*128insCC
ENST00000337474.5:c.*127_*128insCC (AVPR2)	ENSP00000338072.5:n.*127_*128insCC
ENST00000358927.6:c.*127_*128insCC (AVPR2)	ENSP00000351805.2:n.*127_*128insCC
ENST00000434679.5:c.*609_*610insCC (AVPR2)	ENSP00000393397.1:n.*609_*610insCC
ENST00000464967.5:n.154+2214_154+2215insGG (L1CAM)
NM_000054.4:c.*127_*128insCC (AVPR2)	NP_000045.1:n.*127_*128insCC
NM_001146151.1:c.*419_*420insCC (AVPR2)	NP_001139623.1:n.*419_*420insCC
NR_027419.1:n.1290_1291insCC (AVPR2)
XM_006724828.2:c.*127_*128insCC (AVPR2)	XP_006724891.1:n.*127_*128insCC
NM_000054.5:c.*127_*128insCC (AVPR2)	NP_000045.1:n.*127_*128insCC
NM_001146151.2:c.*419_*420insCC (AVPR2)	NP_001139623.1:n.*419_*420insCC
XM_006724828.3:c.*127_*128insCC (AVPR2)	XP_006724891.1:n.*127_*128insCC
NM_000054.6:c.*127_*128insCC (AVPR2)	NP_000045.1:n.*127_*128insCC
NM_001146151.3:c.*419_*420insCC (AVPR2)	NP_001139623.1:n.*419_*420insCC
NR_027419.2:n.1196_1197insCC (AVPR2)
NM_000054.7:c.*127_*128insCC (AVPR2) MANE Select	NP_000045.1:n.*127_*128insCC