Canonical Allele Identifier: CA2695073605

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153905522-TCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905526_153905562del , CM000685.2:g.153905526_153905562del	GRCh38
NC_000023.10:g.153170980_153171016del , CM000685.1:g.153170980_153171016del	GRCh37
NC_000023.9:g.152824174_152824210del	NCBI36
NG_008687.1:g.5553_5589del
NG_009645.3:g.8665_8701del
NG_013220.1:g.25702_25738del

Transcript Alleles

HGVS	Amino-acid change
ENST00000646375.2:c.26-6_56del (AVPR2)
ENST00000434679.6:c.25+356_25+392del (AVPR2)	ENSP00000393397.1:n.25+356_25+392del
ENST00000642393.1:c.97+3511_97+3547del
ENST00000646191.1:c.97+3511_97+3547del
ENST00000646375.1:c.26-6_56del (AVPR2)
ENST00000337474.5:c.26-6_56del (AVPR2)
ENST00000358927.6:c.26-6_56del (AVPR2)
ENST00000370049.1:c.26-6_56del (AVPR2)
ENST00000430697.1:c.26-6_56del (AVPR2)
ENST00000434679.5:c.25+356_25+392del (AVPR2)	ENSP00000393397.1:n.25+356_25+392del
ENST00000464967.5:n.154+3511_154+3547del (L1CAM)
NM_000054.4:c.26-6_56del (AVPR2)
NM_001146151.1:c.26-6_56del (AVPR2)
NR_027419.1:n.559+356_559+392del (AVPR2)
XM_006724828.2:c.26-6_56del (AVPR2)
NM_000054.5:c.26-6_56del (AVPR2)
NM_001146151.2:c.26-6_56del (AVPR2)
XM_006724828.3:c.26-6_56del (AVPR2)
NM_000054.6:c.26-6_56del (AVPR2)
NM_001146151.3:c.26-6_56del (AVPR2)
NR_027419.2:n.465+356_465+392del (AVPR2)
NM_000054.7:c.26-6_56del (AVPR2)