Canonical Allele Identifier: CA873283932

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs1236639144
• gnomAD v3: X-153905325-A-AGGGCTGGGGCTG
• gnomAD v4: X-153905325-A-AGGGCTGGGGCTG
• MyVariant Identifiers: chrX:g.153905325_153905326insGGGCTGGGGCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905344_153905355dup , CM000685.2:g.153905344_153905355dup	GRCh38
NC_000023.10:g.153170798_153170809dup , CM000685.1:g.153170798_153170809dup	GRCh37
NC_000023.9:g.152823992_152824003dup	NCBI36
NG_008687.1:g.5371_5382dup
NG_009645.3:g.8887_8898dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.25+174_26-177dup (AVPR2) MANE Select	ENSP00000496396.1:n.25+174_26-177dup
ENST00000434679.6:c.25+174_25+185dup (AVPR2)	ENSP00000393397.1:n.25+174_25+185dup
ENST00000642393.1:c.97+3733_97+3744dup
ENST00000646191.1:c.97+3733_97+3744dup
ENST00000646375.1:c.25+174_26-177dup (AVPR2)	ENSP00000496396.1:n.25+174_26-177dup
ENST00000337474.5:c.25+174_26-177dup (AVPR2)	ENSP00000338072.5:n.25+174_26-177dup
ENST00000358927.6:c.25+174_26-177dup (AVPR2)	ENSP00000351805.2:n.25+174_26-177dup
ENST00000370049.1:c.25+174_26-177dup (AVPR2)	ENSP00000359066.1:n.25+174_26-177dup
ENST00000430697.1:c.25+174_26-177dup (AVPR2)	ENSP00000393513.1:n.25+174_26-177dup
ENST00000434679.5:c.25+174_25+185dup (AVPR2)	ENSP00000393397.1:n.25+174_25+185dup
ENST00000464967.5:n.154+3733_154+3744dup (L1CAM)
NM_000054.4:c.25+174_26-177dup (AVPR2)	NP_000045.1:n.25+174_26-177dup
NM_001146151.1:c.25+174_26-177dup (AVPR2)	NP_001139623.1:n.25+174_26-177dup
NR_027419.1:n.559+174_559+185dup (AVPR2)
XM_006724828.2:c.25+174_26-177dup (AVPR2)	XP_006724891.1:n.25+174_26-177dup
NM_000054.5:c.25+174_26-177dup (AVPR2)	NP_000045.1:n.25+174_26-177dup
NM_001146151.2:c.25+174_26-177dup (AVPR2)	NP_001139623.1:n.25+174_26-177dup
XM_006724828.3:c.25+174_26-177dup (AVPR2)	XP_006724891.1:n.25+174_26-177dup
NM_000054.6:c.25+174_26-177dup (AVPR2)	NP_000045.1:n.25+174_26-177dup
NM_001146151.3:c.25+174_26-177dup (AVPR2)	NP_001139623.1:n.25+174_26-177dup
NR_027419.2:n.465+174_465+185dup (AVPR2)
NM_000054.7:c.25+174_26-177dup (AVPR2) MANE Select	NP_000045.1:n.25+174_26-177dup