Canonical Allele Identifier: CA2466520296

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905167_153905168delinsTC , CM000685.2:g.153905167_153905168delinsTC	GRCh38
NC_000023.10:g.153170621_153170622delinsTC , CM000685.1:g.153170621_153170622delinsTC	GRCh37
NC_000023.9:g.152823815_152823816delinsTC	NCBI36
NG_008687.1:g.5194_5195delinsTC
NG_009645.3:g.9056_9057delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.22_23delinsTC (AVPR2) MANE Select	ENSP00000496396.1:p.Ser8=
ENST00000434679.6:c.22_23delinsTC (AVPR2)	ENSP00000393397.1:p.Ser8=
ENST00000642393.1:c.97+3902_97+3903delinsGA
ENST00000646191.1:c.97+3902_97+3903delinsGA
ENST00000646375.1:c.22_23delinsTC (AVPR2)	ENSP00000496396.1:p.Ser8=
ENST00000337474.5:c.22_23delinsTC (AVPR2)	ENSP00000338072.5:p.Ser8=
ENST00000358927.6:c.22_23delinsTC (AVPR2)	ENSP00000351805.2:p.Ser8=
ENST00000370049.1:c.22_23delinsTC (AVPR2)	ENSP00000359066.1:p.Ser8=
ENST00000430697.1:c.22_23delinsTC (AVPR2)	ENSP00000393513.1:p.Ser8=
ENST00000434679.5:c.22_23delinsTC (AVPR2)	ENSP00000393397.1:p.Ser8=
ENST00000464967.5:n.154+3902_154+3903delinsGA (L1CAM)
NM_000054.4:c.22_23delinsTC (AVPR2)	NP_000045.1:p.Ser8=
NM_001146151.1:c.22_23delinsTC (AVPR2)	NP_001139623.1:p.Ser8=
NR_027419.1:n.556_557delinsTC (AVPR2)
XM_006724828.2:c.22_23delinsTC (AVPR2)	XP_006724891.1:p.Ser8=
NM_000054.5:c.22_23delinsTC (AVPR2)	NP_000045.1:p.Ser8=
NM_001146151.2:c.22_23delinsTC (AVPR2)	NP_001139623.1:p.Ser8=
XM_006724828.3:c.22_23delinsTC (AVPR2)	XP_006724891.1:p.Ser8=
NM_000054.6:c.22_23delinsTC (AVPR2)	NP_000045.1:p.Ser8=
NM_001146151.3:c.22_23delinsTC (AVPR2)	NP_001139623.1:p.Ser8=
NR_027419.2:n.462_463delinsTC (AVPR2)
NM_000054.7:c.22_23delinsTC (AVPR2) MANE Select	NP_000045.1:p.Ser8=