Canonical Allele Identifier: CA2466520454

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905551_153905560delinsTCTGCCCAGC , CM000685.2:g.153905551_153905560delinsTCTGCCCAGC	GRCh38
NC_000023.10:g.153171005_153171014delinsTCTGCCCAGC , CM000685.1:g.153171005_153171014delinsTCTGCCCAGC	GRCh37
NC_000023.9:g.152824199_152824208delinsTCTGCCCAGC	NCBI36
NG_008687.1:g.5578_5587delinsTCTGCCCAGC
NG_009645.3:g.8664_8673delinsGCTGGGCAGA
NG_013220.1:g.25701_25710delinsGCTGGGCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.45_54delinsTCTGCCCAGC (AVPR2) MANE Select	ENSP00000496396.1:p.Ser15=
ENST00000434679.6:c.25+381_25+390delinsTCTGCCCAGC (AVPR2)	ENSP00000393397.1:n.25+381_25+390delinsTCTGCCCAGC
ENST00000642393.1:c.97+3510_97+3519delinsGCTGGGCAGA
ENST00000646191.1:c.97+3510_97+3519delinsGCTGGGCAGA
ENST00000646375.1:c.45_54delinsTCTGCCCAGC (AVPR2)	ENSP00000496396.1:p.Ser15=
ENST00000337474.5:c.45_54delinsTCTGCCCAGC (AVPR2)	ENSP00000338072.5:p.Ser15=
ENST00000358927.6:c.45_54delinsTCTGCCCAGC (AVPR2)	ENSP00000351805.2:p.Ser15=
ENST00000370049.1:c.45_54delinsTCTGCCCAGC (AVPR2)	ENSP00000359066.1:p.Ser15=
ENST00000430697.1:c.45_54delinsTCTGCCCAGC (AVPR2)	ENSP00000393513.1:p.Ser15=
ENST00000434679.5:c.25+381_25+390delinsTCTGCCCAGC (AVPR2)	ENSP00000393397.1:n.25+381_25+390delinsTCTGCCCAGC
ENST00000464967.5:n.154+3510_154+3519delinsGCTGGGCAGA (L1CAM)
NM_000054.4:c.45_54delinsTCTGCCCAGC (AVPR2)	NP_000045.1:p.Ser15=
NM_001146151.1:c.45_54delinsTCTGCCCAGC (AVPR2)	NP_001139623.1:p.Ser15=
NR_027419.1:n.559+381_559+390delinsTCTGCCCAGC (AVPR2)
XM_006724828.2:c.45_54delinsTCTGCCCAGC (AVPR2)	XP_006724891.1:p.Ser15=
NM_000054.5:c.45_54delinsTCTGCCCAGC (AVPR2)	NP_000045.1:p.Ser15=
NM_001146151.2:c.45_54delinsTCTGCCCAGC (AVPR2)	NP_001139623.1:p.Ser15=
XM_006724828.3:c.45_54delinsTCTGCCCAGC (AVPR2)	XP_006724891.1:p.Ser15=
NM_000054.6:c.45_54delinsTCTGCCCAGC (AVPR2)	NP_000045.1:p.Ser15=
NM_001146151.3:c.45_54delinsTCTGCCCAGC (AVPR2)	NP_001139623.1:p.Ser15=
NR_027419.2:n.465+381_465+390delinsTCTGCCCAGC (AVPR2)
NM_000054.7:c.45_54delinsTCTGCCCAGC (AVPR2) MANE Select	NP_000045.1:p.Ser15=