Canonical Allele Identifier: CA10555139

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs782324823
• ExAC: X:153172173 TTCA / T
• gnomAD v2: X-153172173-TTCA-T
• gnomAD v3: X-153906719-TTCA-T
• gnomAD v4: X-153906719-TTCA-T
• MyVariant Identifiers: chrX:g.153172174_153172176del (hg19) ; chrX:g.153906720_153906722del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906722_153906724del , CM000685.2:g.153906722_153906724del	GRCh38
NC_000023.10:g.153172176_153172178del , CM000685.1:g.153172176_153172178del	GRCh37
NC_000023.9:g.152825370_152825372del	NCBI36
NG_008687.1:g.6749_6751del
NG_009645.3:g.7502_7504del
NG_013220.1:g.24539_24541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.1110_1112del (AVPR2) MANE Select	ENSP00000496396.1:p.Ser371del
ENST00000434679.6:c.*476_*478del (AVPR2)	ENSP00000393397.1:n.*476_*478del
ENST00000642393.1:c.97+2348_97+2350del
ENST00000646191.1:c.97+2348_97+2350del
ENST00000646375.1:c.1110_1112del (AVPR2)	ENSP00000496396.1:p.Ser371del
ENST00000337474.5:c.1110_1112del (AVPR2)	ENSP00000338072.5:p.Ser371del
ENST00000358927.6:c.1110_1112del (AVPR2)	ENSP00000351805.2:p.Ser371del
ENST00000370049.1:c.*286_*288del (AVPR2)	ENSP00000359066.1:n.*286_*288del
ENST00000430697.1:c.1022_1024del (AVPR2)	ENSP00000393513.1:p.His341del
ENST00000434679.5:c.*476_*478del (AVPR2)	ENSP00000393397.1:n.*476_*478del
ENST00000464967.5:n.154+2348_154+2350del (L1CAM)
NM_000054.4:c.1110_1112del (AVPR2)	NP_000045.1:p.Ser371del
NM_001146151.1:c.*286_*288del (AVPR2)	NP_001139623.1:n.*286_*288del
NR_027419.1:n.1157_1159del (AVPR2)
XM_006724828.2:c.1110_1112del (AVPR2)	XP_006724891.1:p.Ser371del
NM_000054.5:c.1110_1112del (AVPR2)	NP_000045.1:p.Ser371del
NM_001146151.2:c.*286_*288del (AVPR2)	NP_001139623.1:n.*286_*288del
XM_006724828.3:c.1110_1112del (AVPR2)	XP_006724891.1:p.Ser371del
NM_000054.6:c.1110_1112del (AVPR2)	NP_000045.1:p.Ser371del
NM_001146151.3:c.*286_*288del (AVPR2)	NP_001139623.1:n.*286_*288del
NR_027419.2:n.1063_1065del (AVPR2)
NM_000054.7:c.1110_1112del (AVPR2) MANE Select	NP_000045.1:p.Ser371del