Canonical Allele Identifier: CA2695073614

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153905798-GCCTGGAAGGCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905801_153905812del , CM000685.2:g.153905801_153905812del	GRCh38
NC_000023.10:g.153171255_153171266del , CM000685.1:g.153171255_153171266del	GRCh37
NC_000023.9:g.152824449_152824460del	NCBI36
NG_008687.1:g.5828_5839del
NG_009645.3:g.8414_8425del
NG_013220.1:g.25451_25462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.295_306del (AVPR2) MANE Select	ENSP00000496396.1:p.Trp99_Thr102del
ENST00000434679.6:c.26-218_26-207del (AVPR2)	ENSP00000393397.1:n.26-218_26-207del
ENST00000642393.1:c.97+3260_97+3271del
ENST00000646191.1:c.97+3260_97+3271del
ENST00000646375.1:c.295_306del (AVPR2)	ENSP00000496396.1:p.Trp99_Thr102del
ENST00000337474.5:c.295_306del (AVPR2)	ENSP00000338072.5:p.Trp99_Thr102del
ENST00000358927.6:c.295_306del (AVPR2)	ENSP00000351805.2:p.Trp99_Thr102del
ENST00000370049.1:c.295_306del (AVPR2)	ENSP00000359066.1:p.Trp99_Thr102del
ENST00000430697.1:c.295_306del (AVPR2)	ENSP00000393513.1:p.Trp99_Thr102del
ENST00000434679.5:c.26-218_26-207del (AVPR2)	ENSP00000393397.1:n.26-218_26-207del
ENST00000464967.5:n.154+3260_154+3271del (L1CAM)
NM_000054.4:c.295_306del (AVPR2)	NP_000045.1:p.Trp99_Thr102del
NM_001146151.1:c.295_306del (AVPR2)	NP_001139623.1:p.Trp99_Thr102del
NR_027419.1:n.560-218_560-207del (AVPR2)
XM_006724828.2:c.295_306del (AVPR2)	XP_006724891.1:p.Trp99_Thr102del
NM_000054.5:c.295_306del (AVPR2)	NP_000045.1:p.Trp99_Thr102del
NM_001146151.2:c.295_306del (AVPR2)	NP_001139623.1:p.Trp99_Thr102del
XM_006724828.3:c.295_306del (AVPR2)	XP_006724891.1:p.Trp99_Thr102del
NM_000054.6:c.295_306del (AVPR2)	NP_000045.1:p.Trp99_Thr102del
NM_001146151.3:c.295_306del (AVPR2)	NP_001139623.1:p.Trp99_Thr102del
NR_027419.2:n.466-218_466-207del (AVPR2)
NM_000054.7:c.295_306del (AVPR2) MANE Select	NP_000045.1:p.Trp99_Thr102del