Canonical Allele Identifier: CA2695073686

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906829-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906831del , CM000685.2:g.153906831del	GRCh38
NC_000023.10:g.153172285del , CM000685.1:g.153172285del	GRCh37
NC_000023.9:g.152825479del	NCBI36
NG_008687.1:g.6858del
NG_009645.3:g.7394del
NG_013220.1:g.24431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*103del (AVPR2) MANE Select	ENSP00000496396.1:n.*103del
ENST00000434679.6:c.*585del (AVPR2)	ENSP00000393397.1:n.*585del
ENST00000642393.1:c.97+2240del
ENST00000646191.1:c.97+2240del
ENST00000646375.1:c.*103del (AVPR2)	ENSP00000496396.1:n.*103del
ENST00000337474.5:c.*103del (AVPR2)	ENSP00000338072.5:n.*103del
ENST00000358927.6:c.*103del (AVPR2)	ENSP00000351805.2:n.*103del
ENST00000434679.5:c.*585del (AVPR2)	ENSP00000393397.1:n.*585del
ENST00000464967.5:n.154+2240del (L1CAM)
NM_000054.4:c.*103del (AVPR2)	NP_000045.1:n.*103del
NM_001146151.1:c.*395del (AVPR2)	NP_001139623.1:n.*395del
NR_027419.1:n.1266del (AVPR2)
XM_006724828.2:c.*103del (AVPR2)	XP_006724891.1:n.*103del
NM_000054.5:c.*103del (AVPR2)	NP_000045.1:n.*103del
NM_001146151.2:c.*395del (AVPR2)	NP_001139623.1:n.*395del
XM_006724828.3:c.*103del (AVPR2)	XP_006724891.1:n.*103del
NM_000054.6:c.*103del (AVPR2)	NP_000045.1:n.*103del
NM_001146151.3:c.*395del (AVPR2)	NP_001139623.1:n.*395del
NR_027419.2:n.1172del (AVPR2)
NM_000054.7:c.*103del (AVPR2) MANE Select	NP_000045.1:n.*103del