Canonical Allele Identifier: CA2466520423

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905495_153905499delinsCCTCT , CM000685.2:g.153905495_153905499delinsCCTCT	GRCh38
NC_000023.10:g.153170949_153170953delinsCCTCT , CM000685.1:g.153170949_153170953delinsCCTCT	GRCh37
NC_000023.9:g.152824143_152824147delinsCCTCT	NCBI36
NG_008687.1:g.5522_5526delinsCCTCT
NG_009645.3:g.8725_8729delinsAGAGG
NG_013220.1:g.25762_25766delinsAGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.26-37_26-33delinsCCTCT (AVPR2) MANE Select	ENSP00000496396.1:n.26-37_26-33delinsCCTCT
ENST00000434679.6:c.25+325_25+329delinsCCTCT (AVPR2)	ENSP00000393397.1:n.25+325_25+329delinsCCTCT
ENST00000642393.1:c.97+3571_97+3575delinsAGAGG
ENST00000646191.1:c.97+3571_97+3575delinsAGAGG
ENST00000646375.1:c.26-37_26-33delinsCCTCT (AVPR2)	ENSP00000496396.1:n.26-37_26-33delinsCCTCT
ENST00000337474.5:c.26-37_26-33delinsCCTCT (AVPR2)	ENSP00000338072.5:n.26-37_26-33delinsCCTCT
ENST00000358927.6:c.26-37_26-33delinsCCTCT (AVPR2)	ENSP00000351805.2:n.26-37_26-33delinsCCTCT
ENST00000370049.1:c.26-37_26-33delinsCCTCT (AVPR2)	ENSP00000359066.1:n.26-37_26-33delinsCCTCT
ENST00000430697.1:c.26-37_26-33delinsCCTCT (AVPR2)	ENSP00000393513.1:n.26-37_26-33delinsCCTCT
ENST00000434679.5:c.25+325_25+329delinsCCTCT (AVPR2)	ENSP00000393397.1:n.25+325_25+329delinsCCTCT
ENST00000464967.5:n.154+3571_154+3575delinsAGAGG (L1CAM)
NM_000054.4:c.26-37_26-33delinsCCTCT (AVPR2)	NP_000045.1:n.26-37_26-33delinsCCTCT
NM_001146151.1:c.26-37_26-33delinsCCTCT (AVPR2)	NP_001139623.1:n.26-37_26-33delinsCCTCT
NR_027419.1:n.559+325_559+329delinsCCTCT (AVPR2)
XM_006724828.2:c.26-37_26-33delinsCCTCT (AVPR2)	XP_006724891.1:n.26-37_26-33delinsCCTCT
NM_000054.5:c.26-37_26-33delinsCCTCT (AVPR2)	NP_000045.1:n.26-37_26-33delinsCCTCT
NM_001146151.2:c.26-37_26-33delinsCCTCT (AVPR2)	NP_001139623.1:n.26-37_26-33delinsCCTCT
XM_006724828.3:c.26-37_26-33delinsCCTCT (AVPR2)	XP_006724891.1:n.26-37_26-33delinsCCTCT
NM_000054.6:c.26-37_26-33delinsCCTCT (AVPR2)	NP_000045.1:n.26-37_26-33delinsCCTCT
NM_001146151.3:c.26-37_26-33delinsCCTCT (AVPR2)	NP_001139623.1:n.26-37_26-33delinsCCTCT
NR_027419.2:n.465+325_465+329delinsCCTCT (AVPR2)
NM_000054.7:c.26-37_26-33delinsCCTCT (AVPR2) MANE Select	NP_000045.1:n.26-37_26-33delinsCCTCT