Canonical Allele Identifier: CA2695073613

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153905649-T-TTGTGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905656_153905661dup , CM000685.2:g.153905656_153905661dup	GRCh38
NC_000023.10:g.153171110_153171115dup , CM000685.1:g.153171110_153171115dup	GRCh37
NC_000023.9:g.152824304_152824309dup	NCBI36
NG_008687.1:g.5683_5688dup
NG_009645.3:g.8569_8574dup
NG_013220.1:g.25606_25611dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.150_155dup (AVPR2) MANE Select	ENSP00000496396.1:p.Ala52_Leu53insValAla
ENST00000434679.6:c.26-363_26-358dup (AVPR2)	ENSP00000393397.1:n.26-363_26-358dup
ENST00000642393.1:c.97+3415_97+3420dup
ENST00000646191.1:c.97+3415_97+3420dup
ENST00000646375.1:c.150_155dup (AVPR2)	ENSP00000496396.1:p.Ala52_Leu53insValAla
ENST00000337474.5:c.150_155dup (AVPR2)	ENSP00000338072.5:p.Ala52_Leu53insValAla
ENST00000358927.6:c.150_155dup (AVPR2)	ENSP00000351805.2:p.Ala52_Leu53insValAla
ENST00000370049.1:c.150_155dup (AVPR2)	ENSP00000359066.1:p.Ala52_Leu53insValAla
ENST00000430697.1:c.150_155dup (AVPR2)	ENSP00000393513.1:p.Ala52_Leu53insValAla
ENST00000434679.5:c.26-363_26-358dup (AVPR2)	ENSP00000393397.1:n.26-363_26-358dup
ENST00000464967.5:n.154+3415_154+3420dup (L1CAM)
NM_000054.4:c.150_155dup (AVPR2)	NP_000045.1:p.Ala52_Leu53insValAla
NM_001146151.1:c.150_155dup (AVPR2)	NP_001139623.1:p.Ala52_Leu53insValAla
NR_027419.1:n.560-363_560-358dup (AVPR2)
XM_006724828.2:c.150_155dup (AVPR2)	XP_006724891.1:p.Ala52_Leu53insValAla
NM_000054.5:c.150_155dup (AVPR2)	NP_000045.1:p.Ala52_Leu53insValAla
NM_001146151.2:c.150_155dup (AVPR2)	NP_001139623.1:p.Ala52_Leu53insValAla
XM_006724828.3:c.150_155dup (AVPR2)	XP_006724891.1:p.Ala52_Leu53insValAla
NM_000054.6:c.150_155dup (AVPR2)	NP_000045.1:p.Ala52_Leu53insValAla
NM_001146151.3:c.150_155dup (AVPR2)	NP_001139623.1:p.Ala52_Leu53insValAla
NR_027419.2:n.466-363_466-358dup (AVPR2)
NM_000054.7:c.150_155dup (AVPR2) MANE Select	NP_000045.1:p.Ala52_Leu53insValAla