Canonical Allele Identifier: CA2695236932

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905932_153905933delinsGG , CM000685.2:g.153905932_153905933delinsGG	GRCh38
NC_000023.10:g.153171386_153171387delinsGG , CM000685.1:g.153171386_153171387delinsGG	GRCh37
NC_000023.9:g.152824580_152824581delinsGG	NCBI36
NG_008687.1:g.5959_5960delinsGG
NG_009645.3:g.8291_8292delinsCC
NG_013220.1:g.25328_25329delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.426_427delinsGG (AVPR2) MANE Select	ENSP00000496396.1:p.Cys142_Arg143delinsTrpGly
ENST00000434679.6:c.26-87_26-86delinsGG (AVPR2)	ENSP00000393397.1:n.26-87_26-86delinsGG
ENST00000642393.1:c.97+3137_97+3138delinsCC
ENST00000646191.1:c.97+3137_97+3138delinsCC
ENST00000646375.1:c.426_427delinsGG (AVPR2)	ENSP00000496396.1:p.Cys142_Arg143delinsTrpGly
ENST00000337474.5:c.426_427delinsGG (AVPR2)	ENSP00000338072.5:p.Cys142_Arg143delinsTrpGly
ENST00000358927.6:c.426_427delinsGG (AVPR2)	ENSP00000351805.2:p.Cys142_Arg143delinsTrpGly
ENST00000370049.1:c.426_427delinsGG (AVPR2)	ENSP00000359066.1:p.Cys142_Arg143delinsTrpGly
ENST00000430697.1:c.426_427delinsGG (AVPR2)	ENSP00000393513.1:p.Cys142_Arg143delinsTrpGly
ENST00000434679.5:c.26-87_26-86delinsGG (AVPR2)	ENSP00000393397.1:n.26-87_26-86delinsGG
ENST00000464967.5:n.154+3137_154+3138delinsCC (L1CAM)
NM_000054.4:c.426_427delinsGG (AVPR2)	NP_000045.1:p.Cys142_Arg143delinsTrpGly
NM_001146151.1:c.426_427delinsGG (AVPR2)	NP_001139623.1:p.Cys142_Arg143delinsTrpGly
NR_027419.1:n.560-87_560-86delinsGG (AVPR2)
XM_006724828.2:c.426_427delinsGG (AVPR2)	XP_006724891.1:p.Cys142_Arg143delinsTrpGly
NM_000054.5:c.426_427delinsGG (AVPR2)	NP_000045.1:p.Cys142_Arg143delinsTrpGly
NM_001146151.2:c.426_427delinsGG (AVPR2)	NP_001139623.1:p.Cys142_Arg143delinsTrpGly
XM_006724828.3:c.426_427delinsGG (AVPR2)	XP_006724891.1:p.Cys142_Arg143delinsTrpGly
NM_000054.6:c.426_427delinsGG (AVPR2)	NP_000045.1:p.Cys142_Arg143delinsTrpGly
NM_001146151.3:c.426_427delinsGG (AVPR2)	NP_001139623.1:p.Cys142_Arg143delinsTrpGly
NR_027419.2:n.466-87_466-86delinsGG (AVPR2)
NM_000054.7:c.426_427delinsGG (AVPR2) MANE Select	NP_000045.1:p.Cys142_Arg143delinsTrpGly