Canonical Allele Identifier: CA2695073450

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153905266-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905271_153905272del , CM000685.2:g.153905271_153905272del	GRCh38
NC_000023.10:g.153170725_153170726del , CM000685.1:g.153170725_153170726del	GRCh37
NC_000023.9:g.152823919_152823920del	NCBI36
NG_008687.1:g.5298_5299del
NG_009645.3:g.8956_8957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.25+101_25+102del (AVPR2) MANE Select	ENSP00000496396.1:n.25+101_25+102del
ENST00000434679.6:c.25+101_25+102del (AVPR2)	ENSP00000393397.1:n.25+101_25+102del
ENST00000642393.1:c.97+3802_97+3803del
ENST00000646191.1:c.97+3802_97+3803del
ENST00000646375.1:c.25+101_25+102del (AVPR2)	ENSP00000496396.1:n.25+101_25+102del
ENST00000337474.5:c.25+101_25+102del (AVPR2)	ENSP00000338072.5:n.25+101_25+102del
ENST00000358927.6:c.25+101_25+102del (AVPR2)	ENSP00000351805.2:n.25+101_25+102del
ENST00000370049.1:c.25+101_25+102del (AVPR2)	ENSP00000359066.1:n.25+101_25+102del
ENST00000430697.1:c.25+101_25+102del (AVPR2)	ENSP00000393513.1:n.25+101_25+102del
ENST00000434679.5:c.25+101_25+102del (AVPR2)	ENSP00000393397.1:n.25+101_25+102del
ENST00000464967.5:n.154+3802_154+3803del (L1CAM)
NM_000054.4:c.25+101_25+102del (AVPR2)	NP_000045.1:n.25+101_25+102del
NM_001146151.1:c.25+101_25+102del (AVPR2)	NP_001139623.1:n.25+101_25+102del
NR_027419.1:n.559+101_559+102del (AVPR2)
XM_006724828.2:c.25+101_25+102del (AVPR2)	XP_006724891.1:n.25+101_25+102del
NM_000054.5:c.25+101_25+102del (AVPR2)	NP_000045.1:n.25+101_25+102del
NM_001146151.2:c.25+101_25+102del (AVPR2)	NP_001139623.1:n.25+101_25+102del
XM_006724828.3:c.25+101_25+102del (AVPR2)	XP_006724891.1:n.25+101_25+102del
NM_000054.6:c.25+101_25+102del (AVPR2)	NP_000045.1:n.25+101_25+102del
NM_001146151.3:c.25+101_25+102del (AVPR2)	NP_001139623.1:n.25+101_25+102del
NR_027419.2:n.465+101_465+102del (AVPR2)
NM_000054.7:c.25+101_25+102del (AVPR2) MANE Select	NP_000045.1:n.25+101_25+102del