Canonical Allele Identifier: CA2695236933

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905936_153905948del , CM000685.2:g.153905936_153905948del	GRCh38
NC_000023.10:g.153171390_153171402del , CM000685.1:g.153171390_153171402del	GRCh37
NC_000023.9:g.152824584_152824596del	NCBI36
NG_008687.1:g.5963_5975del
NG_009645.3:g.8279_8291del
NG_013220.1:g.25316_25328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.430_442del (AVPR2) MANE Select	ENSP00000496396.1:p.Pro144ThrfsTer14
ENST00000434679.6:c.26-83_26-71del (AVPR2)	ENSP00000393397.1:n.26-83_26-71del
ENST00000642393.1:c.97+3125_97+3137del
ENST00000646191.1:c.97+3125_97+3137del
ENST00000646375.1:c.430_442del (AVPR2)	ENSP00000496396.1:p.Pro144ThrfsTer14
ENST00000337474.5:c.430_442del (AVPR2)	ENSP00000338072.5:p.Pro144ThrfsTer14
ENST00000358927.6:c.430_442del (AVPR2)	ENSP00000351805.2:p.Pro144ThrfsTer14
ENST00000370049.1:c.430_442del (AVPR2)	ENSP00000359066.1:p.Pro144ThrfsTer14
ENST00000430697.1:c.430_442del (AVPR2)	ENSP00000393513.1:p.Pro144ThrfsTer14
ENST00000434679.5:c.26-83_26-71del (AVPR2)	ENSP00000393397.1:n.26-83_26-71del
ENST00000464967.5:n.154+3125_154+3137del (L1CAM)
NM_000054.4:c.430_442del (AVPR2)	NP_000045.1:p.Pro144ThrfsTer14
NM_001146151.1:c.430_442del (AVPR2)	NP_001139623.1:p.Pro144ThrfsTer14
NR_027419.1:n.560-83_560-71del (AVPR2)
XM_006724828.2:c.430_442del (AVPR2)	XP_006724891.1:p.Pro144ThrfsTer14
NM_000054.5:c.430_442del (AVPR2)	NP_000045.1:p.Pro144ThrfsTer14
NM_001146151.2:c.430_442del (AVPR2)	NP_001139623.1:p.Pro144ThrfsTer14
XM_006724828.3:c.430_442del (AVPR2)	XP_006724891.1:p.Pro144ThrfsTer14
NM_000054.6:c.430_442del (AVPR2)	NP_000045.1:p.Pro144ThrfsTer14
NM_001146151.3:c.430_442del (AVPR2)	NP_001139623.1:p.Pro144ThrfsTer14
NR_027419.2:n.466-83_466-71del (AVPR2)
NM_000054.7:c.430_442del (AVPR2) MANE Select	NP_000045.1:p.Pro144ThrfsTer14