Canonical Allele Identifier: CA2695236928

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905922_153905926del , CM000685.2:g.153905922_153905926del	GRCh38
NC_000023.10:g.153171376_153171380del , CM000685.1:g.153171376_153171380del	GRCh37
NC_000023.9:g.152824570_152824574del	NCBI36
NG_008687.1:g.5949_5953del
NG_009645.3:g.8300_8304del
NG_013220.1:g.25337_25341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.416_420del (AVPR2) MANE Select	ENSP00000496396.1:p.Arg139HisfsTer?
ENST00000434679.6:c.26-97_26-93del (AVPR2)	ENSP00000393397.1:n.26-97_26-93del
ENST00000642393.1:c.97+3146_97+3150del
ENST00000646191.1:c.97+3146_97+3150del
ENST00000646375.1:c.416_420del (AVPR2)	ENSP00000496396.1:p.Arg139HisfsTer?
ENST00000337474.5:c.416_420del (AVPR2)	ENSP00000338072.5:p.Arg139HisfsTer?
ENST00000358927.6:c.416_420del (AVPR2)	ENSP00000351805.2:p.Arg139HisfsTer?
ENST00000370049.1:c.416_420del (AVPR2)	ENSP00000359066.1:p.Arg139HisfsTer?
ENST00000430697.1:c.416_420del (AVPR2)	ENSP00000393513.1:p.Arg139HisfsTer?
ENST00000434679.5:c.26-97_26-93del (AVPR2)	ENSP00000393397.1:n.26-97_26-93del
ENST00000464967.5:n.154+3146_154+3150del (L1CAM)
NM_000054.4:c.416_420del (AVPR2)	NP_000045.1:p.Arg139HisfsTer?
NM_001146151.1:c.416_420del (AVPR2)	NP_001139623.1:p.Arg139HisfsTer?
NR_027419.1:n.560-97_560-93del (AVPR2)
XM_006724828.2:c.416_420del (AVPR2)	XP_006724891.1:p.Arg139HisfsTer?
NM_000054.5:c.416_420del (AVPR2)	NP_000045.1:p.Arg139HisfsTer?
NM_001146151.2:c.416_420del (AVPR2)	NP_001139623.1:p.Arg139HisfsTer?
XM_006724828.3:c.416_420del (AVPR2)	XP_006724891.1:p.Arg139HisfsTer?
NM_000054.6:c.416_420del (AVPR2)	NP_000045.1:p.Arg139HisfsTer?
NM_001146151.3:c.416_420del (AVPR2)	NP_001139623.1:p.Arg139HisfsTer?
NR_027419.2:n.466-97_466-93del (AVPR2)
NM_000054.7:c.416_420del (AVPR2) MANE Select	NP_000045.1:p.Arg139HisfsTer?