Canonical Allele Identifier: CA2695197145

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 2630891
• ClinVar RCV Id: RCV003404265

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905552_153905567del , CM000685.2:g.153905552_153905567del	GRCh38
NC_000023.10:g.153171006_153171021del , CM000685.1:g.153171006_153171021del	GRCh37
NC_000023.9:g.152824200_152824215del	NCBI36
NG_008687.1:g.5579_5594del
NG_009645.3:g.8657_8672del
NG_013220.1:g.25694_25709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.46_61del (AVPR2) MANE Select	ENSP00000496396.1:p.Leu16AlafsTer16
ENST00000434679.6:c.25+382_25+397del (AVPR2)	ENSP00000393397.1:n.25+382_25+397del
ENST00000642393.1:c.97+3503_97+3518del
ENST00000646191.1:c.97+3503_97+3518del
ENST00000646375.1:c.46_61del (AVPR2)	ENSP00000496396.1:p.Leu16AlafsTer16
ENST00000337474.5:c.46_61del (AVPR2)	ENSP00000338072.5:p.Leu16AlafsTer16
ENST00000358927.6:c.46_61del (AVPR2)	ENSP00000351805.2:p.Leu16AlafsTer16
ENST00000370049.1:c.46_61del (AVPR2)	ENSP00000359066.1:p.Leu16AlafsTer16
ENST00000430697.1:c.46_61del (AVPR2)	ENSP00000393513.1:p.Leu16AlafsTer16
ENST00000434679.5:c.25+382_25+397del (AVPR2)	ENSP00000393397.1:n.25+382_25+397del
ENST00000464967.5:n.154+3503_154+3518del (L1CAM)
NM_000054.4:c.46_61del (AVPR2)	NP_000045.1:p.Leu16AlafsTer16
NM_001146151.1:c.46_61del (AVPR2)	NP_001139623.1:p.Leu16AlafsTer16
NR_027419.1:n.559+382_559+397del (AVPR2)
XM_006724828.2:c.46_61del (AVPR2)	XP_006724891.1:p.Leu16AlafsTer16
NM_000054.5:c.46_61del (AVPR2)	NP_000045.1:p.Leu16AlafsTer16
NM_001146151.2:c.46_61del (AVPR2)	NP_001139623.1:p.Leu16AlafsTer16
XM_006724828.3:c.46_61del (AVPR2)	XP_006724891.1:p.Leu16AlafsTer16
NM_000054.6:c.46_61del (AVPR2)	NP_000045.1:p.Leu16AlafsTer16
NM_001146151.3:c.46_61del (AVPR2)	NP_001139623.1:p.Leu16AlafsTer16
NR_027419.2:n.465+382_465+397del (AVPR2)
NM_000054.7:c.46_61del (AVPR2) MANE Select	NP_000045.1:p.Leu16AlafsTer16