Canonical Allele Identifier: CA2531953827

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906548_153906549insAGG , CM000685.2:g.153906548_153906549insAGG	GRCh38
NC_000023.10:g.153172002_153172003insAGG , CM000685.1:g.153172002_153172003insAGG	GRCh37
NC_000023.9:g.152825196_152825197insAGG	NCBI36
NG_008687.1:g.6575_6576insAGG
NG_009645.3:g.7676_7677insCTC
NG_013220.1:g.24713_24714insCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.936_937insAGG (AVPR2) MANE Select	ENSP00000496396.1:p.Leu312_Leu313insArg
ENST00000434679.6:c.*302_*303insAGG (AVPR2)	ENSP00000393397.1:n.*302_*303insAGG
ENST00000642393.1:c.97+2522_97+2523insCTC
ENST00000646191.1:c.97+2522_97+2523insCTC
ENST00000646375.1:c.936_937insAGG (AVPR2)	ENSP00000496396.1:p.Leu312_Leu313insArg
ENST00000337474.5:c.936_937insAGG (AVPR2)	ENSP00000338072.5:p.Leu312_Leu313insArg
ENST00000358927.6:c.936_937insAGG (AVPR2)	ENSP00000351805.2:p.Leu312_Leu313insArg
ENST00000370049.1:c.*112_*113insAGG (AVPR2)	ENSP00000359066.1:n.*112_*113insAGG
ENST00000430697.1:c.848_849insAGG (AVPR2)	ENSP00000393513.1:p.Cys283Ter
ENST00000434679.5:c.*302_*303insAGG (AVPR2)	ENSP00000393397.1:n.*302_*303insAGG
ENST00000464967.5:n.154+2522_154+2523insCTC (L1CAM)
NM_000054.4:c.936_937insAGG (AVPR2)	NP_000045.1:p.Leu312_Leu313insArg
NM_001146151.1:c.*112_*113insAGG (AVPR2)	NP_001139623.1:n.*112_*113insAGG
NR_027419.1:n.983_984insAGG (AVPR2)
XM_006724828.2:c.936_937insAGG (AVPR2)	XP_006724891.1:p.Leu312_Leu313insArg
NM_000054.5:c.936_937insAGG (AVPR2)	NP_000045.1:p.Leu312_Leu313insArg
NM_001146151.2:c.*112_*113insAGG (AVPR2)	NP_001139623.1:n.*112_*113insAGG
XM_006724828.3:c.936_937insAGG (AVPR2)	XP_006724891.1:p.Leu312_Leu313insArg
NM_000054.6:c.936_937insAGG (AVPR2)	NP_000045.1:p.Leu312_Leu313insArg
NM_001146151.3:c.*112_*113insAGG (AVPR2)	NP_001139623.1:n.*112_*113insAGG
NR_027419.2:n.889_890insAGG (AVPR2)
NM_000054.7:c.936_937insAGG (AVPR2) MANE Select	NP_000045.1:p.Leu312_Leu313insArg