Canonical Allele Identifier: CA2695236975

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906602_153906605dup , CM000685.2:g.153906602_153906605dup	GRCh38
NC_000023.10:g.153172056_153172059dup , CM000685.1:g.153172056_153172059dup	GRCh37
NC_000023.9:g.152825250_152825253dup	NCBI36
NG_008687.1:g.6629_6632dup
NG_009645.3:g.7619_7622dup
NG_013220.1:g.24656_24659dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.990_993dup (AVPR2) MANE Select	ENSP00000496396.1:p.Val332GlnfsTer26
ENST00000434679.6:c.*356_*359dup (AVPR2)	ENSP00000393397.1:n.*356_*359dup
ENST00000642393.1:c.97+2465_97+2468dup
ENST00000646191.1:c.97+2465_97+2468dup
ENST00000646375.1:c.990_993dup (AVPR2)	ENSP00000496396.1:p.Val332GlnfsTer26
ENST00000337474.5:c.990_993dup (AVPR2)	ENSP00000338072.5:p.Val332GlnfsTer26
ENST00000358927.6:c.990_993dup (AVPR2)	ENSP00000351805.2:p.Val332GlnfsTer26
ENST00000370049.1:c.*166_*169dup (AVPR2)	ENSP00000359066.1:n.*166_*169dup
ENST00000430697.1:c.902_905dup (AVPR2)	ENSP00000393513.1:p.Cys303SerfsTer?
ENST00000434679.5:c.*356_*359dup (AVPR2)	ENSP00000393397.1:n.*356_*359dup
ENST00000464967.5:n.154+2465_154+2468dup (L1CAM)
NM_000054.4:c.990_993dup (AVPR2)	NP_000045.1:p.Val332GlnfsTer26
NM_001146151.1:c.*166_*169dup (AVPR2)	NP_001139623.1:n.*166_*169dup
NR_027419.1:n.1037_1040dup (AVPR2)
XM_006724828.2:c.990_993dup (AVPR2)	XP_006724891.1:p.Val332GlnfsTer26
NM_000054.5:c.990_993dup (AVPR2)	NP_000045.1:p.Val332GlnfsTer26
NM_001146151.2:c.*166_*169dup (AVPR2)	NP_001139623.1:n.*166_*169dup
XM_006724828.3:c.990_993dup (AVPR2)	XP_006724891.1:p.Val332GlnfsTer26
NM_000054.6:c.990_993dup (AVPR2)	NP_000045.1:p.Val332GlnfsTer26
NM_001146151.3:c.*166_*169dup (AVPR2)	NP_001139623.1:n.*166_*169dup
NR_027419.2:n.943_946dup (AVPR2)
NM_000054.7:c.990_993dup (AVPR2) MANE Select	NP_000045.1:p.Val332GlnfsTer26