Canonical Allele Identifier: CA2512230177

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906543_153906544insGC , CM000685.2:g.153906543_153906544insGC	GRCh38
NC_000023.10:g.153171997_153171998insGC , CM000685.1:g.153171997_153171998insGC	GRCh37
NC_000023.9:g.152825191_152825192insGC	NCBI36
NG_008687.1:g.6570_6571insGC
NG_009645.3:g.7680_7681insGC
NG_013220.1:g.24717_24718insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.931_932insGC (AVPR2) MANE Select	ENSP00000496396.1:p.Met311SerfsTer?
ENST00000434679.6:c.*297_*298insGC (AVPR2)	ENSP00000393397.1:n.*297_*298insGC
ENST00000642393.1:c.97+2526_97+2527insGC
ENST00000646191.1:c.97+2526_97+2527insGC
ENST00000646375.1:c.931_932insGC (AVPR2)	ENSP00000496396.1:p.Met311SerfsTer?
ENST00000337474.5:c.931_932insGC (AVPR2)	ENSP00000338072.5:p.Met311SerfsTer?
ENST00000358927.6:c.931_932insGC (AVPR2)	ENSP00000351805.2:p.Met311SerfsTer?
ENST00000370049.1:c.*107_*108insGC (AVPR2)	ENSP00000359066.1:n.*107_*108insGC
ENST00000430697.1:c.843_844insGC (AVPR2)	ENSP00000393513.1:p.Cys282AlafsTer?
ENST00000434679.5:c.*297_*298insGC (AVPR2)	ENSP00000393397.1:n.*297_*298insGC
ENST00000464967.5:n.154+2526_154+2527insGC (L1CAM)
NM_000054.4:c.931_932insGC (AVPR2)	NP_000045.1:p.Met311SerfsTer?
NM_001146151.1:c.*107_*108insGC (AVPR2)	NP_001139623.1:n.*107_*108insGC
NR_027419.1:n.978_979insGC (AVPR2)
XM_006724828.2:c.931_932insGC (AVPR2)	XP_006724891.1:p.Met311SerfsTer?
NM_000054.5:c.931_932insGC (AVPR2)	NP_000045.1:p.Met311SerfsTer?
NM_001146151.2:c.*107_*108insGC (AVPR2)	NP_001139623.1:n.*107_*108insGC
XM_006724828.3:c.931_932insGC (AVPR2)	XP_006724891.1:p.Met311SerfsTer?
NM_000054.6:c.931_932insGC (AVPR2)	NP_000045.1:p.Met311SerfsTer?
NM_001146151.3:c.*107_*108insGC (AVPR2)	NP_001139623.1:n.*107_*108insGC
NR_027419.2:n.884_885insGC (AVPR2)
NM_000054.7:c.931_932insGC (AVPR2) MANE Select	NP_000045.1:p.Met311SerfsTer?