Canonical Allele Identifier: CA2824277156

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906778_153906779insC , CM000685.2:g.153906778_153906779insC	GRCh38
NC_000023.10:g.153172232_153172233insC , CM000685.1:g.153172232_153172233insC	GRCh37
NC_000023.9:g.152825426_152825427insC	NCBI36
NG_008687.1:g.6805_6806insC
NG_009645.3:g.7445_7446insG
NG_013220.1:g.24482_24483insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*50_*51insC (AVPR2) MANE Select	ENSP00000496396.1:n.*50_*51insC
ENST00000434679.6:c.*532_*533insC (AVPR2)	ENSP00000393397.1:n.*532_*533insC
ENST00000642393.1:c.97+2291_97+2292insG
ENST00000646191.1:c.97+2291_97+2292insG
ENST00000646375.1:c.*50_*51insC (AVPR2)	ENSP00000496396.1:n.*50_*51insC
ENST00000337474.5:c.*50_*51insC (AVPR2)	ENSP00000338072.5:n.*50_*51insC
ENST00000358927.6:c.*50_*51insC (AVPR2)	ENSP00000351805.2:n.*50_*51insC
ENST00000370049.1:c.*342_*343insC (AVPR2)	ENSP00000359066.1:n.*342_*343insC
ENST00000430697.1:c.1078_1079insC (AVPR2)	ENSP00000393513.1:p.Phe360SerfsTer?
ENST00000434679.5:c.*532_*533insC (AVPR2)	ENSP00000393397.1:n.*532_*533insC
ENST00000464967.5:n.154+2291_154+2292insG (L1CAM)
NM_000054.4:c.*50_*51insC (AVPR2)	NP_000045.1:n.*50_*51insC
NM_001146151.1:c.*342_*343insC (AVPR2)	NP_001139623.1:n.*342_*343insC
NR_027419.1:n.1213_1214insC (AVPR2)
XM_006724828.2:c.*50_*51insC (AVPR2)	XP_006724891.1:n.*50_*51insC
NM_000054.5:c.*50_*51insC (AVPR2)	NP_000045.1:n.*50_*51insC
NM_001146151.2:c.*342_*343insC (AVPR2)	NP_001139623.1:n.*342_*343insC
XM_006724828.3:c.*50_*51insC (AVPR2)	XP_006724891.1:n.*50_*51insC
NM_000054.6:c.*50_*51insC (AVPR2)	NP_000045.1:n.*50_*51insC
NM_001146151.3:c.*342_*343insC (AVPR2)	NP_001139623.1:n.*342_*343insC
NR_027419.2:n.1119_1120insC (AVPR2)
NM_000054.7:c.*50_*51insC (AVPR2) MANE Select	NP_000045.1:n.*50_*51insC