Canonical Allele Identifier: CA2695236949

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906120_153906121del , CM000685.2:g.153906120_153906121del	GRCh38
NC_000023.10:g.153171574_153171575del , CM000685.1:g.153171574_153171575del	GRCh37
NC_000023.9:g.152824768_152824769del	NCBI36
NG_008687.1:g.6147_6148del
NG_009645.3:g.8104_8105del
NG_013220.1:g.25141_25142del

Transcript Alleles

HGVS	Amino-acid change
ENST00000646375.2:c.614_615del (AVPR2) MANE Select	ENSP00000496396.1:p.Tyr205CysfsTer?
ENST00000434679.6:c.127_128del (AVPR2)	ENSP00000393397.1:p.Met43ValfsTer?
ENST00000642393.1:c.97+2950_97+2951del
ENST00000646191.1:c.97+2950_97+2951del
ENST00000646375.1:c.614_615del (AVPR2)	ENSP00000496396.1:p.Tyr205CysfsTer?
ENST00000337474.5:c.614_615del (AVPR2)	ENSP00000338072.5:p.Tyr205CysfsTer?
ENST00000358927.6:c.614_615del (AVPR2)	ENSP00000351805.2:p.Tyr205CysfsTer?
ENST00000370049.1:c.614_615del (AVPR2)	ENSP00000359066.1:p.Tyr205CysfsTer?
ENST00000430697.1:c.614_615del (AVPR2)	ENSP00000393513.1:p.Tyr205CysfsTer?
ENST00000434679.5:c.127_128del (AVPR2)	ENSP00000393397.1:p.Met43ValfsTer?
ENST00000464967.5:n.154+2950_154+2951del (L1CAM)
NM_000054.4:c.614_615del (AVPR2)	NP_000045.1:p.Tyr205CysfsTer?
NM_001146151.1:c.614_615del (AVPR2)	NP_001139623.1:p.Tyr205CysfsTer?
NR_027419.1:n.661_662del (AVPR2)
XM_006724828.2:c.614_615del (AVPR2)	XP_006724891.1:p.Tyr205CysfsTer?
NM_000054.5:c.614_615del (AVPR2)	NP_000045.1:p.Tyr205CysfsTer?
NM_001146151.2:c.614_615del (AVPR2)	NP_001139623.1:p.Tyr205CysfsTer?
XM_006724828.3:c.614_615del (AVPR2)	XP_006724891.1:p.Tyr205CysfsTer?
NM_000054.6:c.614_615del (AVPR2)	NP_000045.1:p.Tyr205CysfsTer?
NM_001146151.3:c.614_615del (AVPR2)	NP_001139623.1:p.Tyr205CysfsTer?
NR_027419.2:n.567_568del (AVPR2)
NM_000054.7:c.614_615del (AVPR2) MANE Select	NP_000045.1:p.Tyr205CysfsTer?