Canonical Allele Identifier: CA2579733578

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906710del , CM000685.2:g.153906710del	GRCh38
NC_000023.10:g.153172164del , CM000685.1:g.153172164del	GRCh37
NC_000023.9:g.152825358del	NCBI36
NG_008687.1:g.6737del
NG_009645.3:g.7515del
NG_013220.1:g.24552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.1098del (AVPR2) MANE Select	ENSP00000496396.1:p.Lys367ArgfsTer?
ENST00000434679.6:c.*464del (AVPR2)	ENSP00000393397.1:n.*464del
ENST00000642393.1:c.97+2361del
ENST00000646191.1:c.97+2361del
ENST00000646375.1:c.1098del (AVPR2)	ENSP00000496396.1:p.Lys367ArgfsTer?
ENST00000337474.5:c.1098del (AVPR2)	ENSP00000338072.5:p.Lys367ArgfsTer?
ENST00000358927.6:c.1098del (AVPR2)	ENSP00000351805.2:p.Lys367ArgfsTer?
ENST00000370049.1:c.*274del (AVPR2)	ENSP00000359066.1:n.*274del
ENST00000430697.1:c.1010del (AVPR2)	ENSP00000393513.1:p.Pro337GlnfsTer15
ENST00000434679.5:c.*464del (AVPR2)	ENSP00000393397.1:n.*464del
ENST00000464967.5:n.154+2361del (L1CAM)
NM_000054.4:c.1098del (AVPR2)	NP_000045.1:p.Lys367ArgfsTer?
NM_001146151.1:c.*274del (AVPR2)	NP_001139623.1:n.*274del
NR_027419.1:n.1145del (AVPR2)
XM_006724828.2:c.1098del (AVPR2)	XP_006724891.1:p.Lys367ArgfsTer?
NM_000054.5:c.1098del (AVPR2)	NP_000045.1:p.Lys367ArgfsTer?
NM_001146151.2:c.*274del (AVPR2)	NP_001139623.1:n.*274del
XM_006724828.3:c.1098del (AVPR2)	XP_006724891.1:p.Lys367ArgfsTer?
NM_000054.6:c.1098del (AVPR2)	NP_000045.1:p.Lys367ArgfsTer?
NM_001146151.3:c.*274del (AVPR2)	NP_001139623.1:n.*274del
NR_027419.2:n.1051del (AVPR2)
NM_000054.7:c.1098del (AVPR2) MANE Select	NP_000045.1:p.Lys367ArgfsTer?