Canonical Allele Identifier: CA873283981

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs1444076859
• MyVariant Identifiers: chrX:g.153905437del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905438del , CM000685.2:g.153905438del	GRCh38
NC_000023.10:g.153170892del , CM000685.1:g.153170892del	GRCh37
NC_000023.9:g.152824086del	NCBI36
NG_008687.1:g.5465del
NG_009645.3:g.8787del
NG_013220.1:g.25824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.26-94del (AVPR2) MANE Select	ENSP00000496396.1:n.26-94del
ENST00000434679.6:c.25+268del (AVPR2)	ENSP00000393397.1:n.25+268del
ENST00000642393.1:c.97+3633del
ENST00000646191.1:c.97+3633del
ENST00000646375.1:c.26-94del (AVPR2)	ENSP00000496396.1:n.26-94del
ENST00000337474.5:c.26-94del (AVPR2)	ENSP00000338072.5:n.26-94del
ENST00000358927.6:c.26-94del (AVPR2)	ENSP00000351805.2:n.26-94del
ENST00000370049.1:c.26-94del (AVPR2)	ENSP00000359066.1:n.26-94del
ENST00000430697.1:c.26-94del (AVPR2)	ENSP00000393513.1:n.26-94del
ENST00000434679.5:c.25+268del (AVPR2)	ENSP00000393397.1:n.25+268del
ENST00000464967.5:n.154+3633del (L1CAM)
NM_000054.4:c.26-94del (AVPR2)	NP_000045.1:n.26-94del
NM_001146151.1:c.26-94del (AVPR2)	NP_001139623.1:n.26-94del
NR_027419.1:n.559+268del (AVPR2)
XM_006724828.2:c.26-94del (AVPR2)	XP_006724891.1:n.26-94del
NM_000054.5:c.26-94del (AVPR2)	NP_000045.1:n.26-94del
NM_001146151.2:c.26-94del (AVPR2)	NP_001139623.1:n.26-94del
XM_006724828.3:c.26-94del (AVPR2)	XP_006724891.1:n.26-94del
NM_000054.6:c.26-94del (AVPR2)	NP_000045.1:n.26-94del
NM_001146151.3:c.26-94del (AVPR2)	NP_001139623.1:n.26-94del
NR_027419.2:n.465+268del (AVPR2)
NM_000054.7:c.26-94del (AVPR2) MANE Select	NP_000045.1:n.26-94del