Canonical Allele Identifier: CA2695073680

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906808-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906813dup , CM000685.2:g.153906813dup	GRCh38
NC_000023.10:g.153172267dup , CM000685.1:g.153172267dup	GRCh37
NC_000023.9:g.152825461dup	NCBI36
NG_008687.1:g.6840dup
NG_009645.3:g.7415dup
NG_013220.1:g.24452dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*85dup (AVPR2) MANE Select	ENSP00000496396.1:n.*85dup
ENST00000434679.6:c.*567dup (AVPR2)	ENSP00000393397.1:n.*567dup
ENST00000642393.1:c.97+2261dup
ENST00000646191.1:c.97+2261dup
ENST00000646375.1:c.*85dup (AVPR2)	ENSP00000496396.1:n.*85dup
ENST00000337474.5:c.*85dup (AVPR2)	ENSP00000338072.5:n.*85dup
ENST00000358927.6:c.*85dup (AVPR2)	ENSP00000351805.2:n.*85dup
ENST00000430697.1:c.1113dup (AVPR2)	ENSP00000393513.1:p.Thr372AspfsTer?
ENST00000434679.5:c.*567dup (AVPR2)	ENSP00000393397.1:n.*567dup
ENST00000464967.5:n.154+2261dup (L1CAM)
NM_000054.4:c.*85dup (AVPR2)	NP_000045.1:n.*85dup
NM_001146151.1:c.*377dup (AVPR2)	NP_001139623.1:n.*377dup
NR_027419.1:n.1248dup (AVPR2)
XM_006724828.2:c.*85dup (AVPR2)	XP_006724891.1:n.*85dup
NM_000054.5:c.*85dup (AVPR2)	NP_000045.1:n.*85dup
NM_001146151.2:c.*377dup (AVPR2)	NP_001139623.1:n.*377dup
XM_006724828.3:c.*85dup (AVPR2)	XP_006724891.1:n.*85dup
NM_000054.6:c.*85dup (AVPR2)	NP_000045.1:n.*85dup
NM_001146151.3:c.*377dup (AVPR2)	NP_001139623.1:n.*377dup
NR_027419.2:n.1154dup (AVPR2)
NM_000054.7:c.*85dup (AVPR2) MANE Select	NP_000045.1:n.*85dup