Canonical Allele Identifier: CA873284427

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs782292545
• gnomAD v4: X-153905695-T-TCGGCGGGGC
• MyVariant Identifiers: chrX:g.153905695_153905696insCGGCGGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905706_153905714dup , CM000685.2:g.153905706_153905714dup	GRCh38
NC_000023.10:g.153171160_153171168dup , CM000685.1:g.153171160_153171168dup	GRCh37
NC_000023.9:g.152824354_152824362dup	NCBI36
NG_008687.1:g.5733_5741dup
NG_009645.3:g.8520_8528dup
NG_013220.1:g.25557_25565dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000646375.2:c.200_208dup (AVPR2) MANE Select	ENSP00000496396.1:p.Gly69_His70insArgArgGly
ENST00000434679.6:c.26-313_26-305dup (AVPR2)	ENSP00000393397.1:n.26-313_26-305dup
ENST00000642393.1:c.97+3366_97+3374dup
ENST00000646191.1:c.97+3366_97+3374dup
ENST00000646375.1:c.200_208dup (AVPR2)	ENSP00000496396.1:p.Gly69_His70insArgArgGly
ENST00000337474.5:c.200_208dup (AVPR2)	ENSP00000338072.5:p.Gly69_His70insArgArgGly
ENST00000358927.6:c.200_208dup (AVPR2)	ENSP00000351805.2:p.Gly69_His70insArgArgGly
ENST00000370049.1:c.200_208dup (AVPR2)	ENSP00000359066.1:p.Gly69_His70insArgArgGly
ENST00000430697.1:c.200_208dup (AVPR2)	ENSP00000393513.1:p.Gly69_His70insArgArgGly
ENST00000434679.5:c.26-313_26-305dup (AVPR2)	ENSP00000393397.1:n.26-313_26-305dup
ENST00000464967.5:n.154+3366_154+3374dup (L1CAM)
NM_000054.4:c.200_208dup (AVPR2)	NP_000045.1:p.Gly69_His70insArgArgGly
NM_001146151.1:c.200_208dup (AVPR2)	NP_001139623.1:p.Gly69_His70insArgArgGly
NR_027419.1:n.560-313_560-305dup (AVPR2)
XM_006724828.2:c.200_208dup (AVPR2)	XP_006724891.1:p.Gly69_His70insArgArgGly
NM_000054.5:c.200_208dup (AVPR2)	NP_000045.1:p.Gly69_His70insArgArgGly
NM_001146151.2:c.200_208dup (AVPR2)	NP_001139623.1:p.Gly69_His70insArgArgGly
XM_006724828.3:c.200_208dup (AVPR2)	XP_006724891.1:p.Gly69_His70insArgArgGly
NM_000054.6:c.200_208dup (AVPR2)	NP_000045.1:p.Gly69_His70insArgArgGly
NM_001146151.3:c.200_208dup (AVPR2)	NP_001139623.1:p.Gly69_His70insArgArgGly
NR_027419.2:n.466-313_466-305dup (AVPR2)
NM_000054.7:c.200_208dup (AVPR2) MANE Select	NP_000045.1:p.Gly69_His70insArgArgGly