Canonical Allele Identifier: CA2651674369

Gene: AVP

Linked Data

• gnomAD v4: 20-3082759-GCGGTGAAAGCCCTCGCGGCACTCGGGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082764_3082791del , CM000682.2:g.3082764_3082791del	GRCh38
NC_000020.10:g.3063410_3063437del , CM000682.1:g.3063410_3063437del	GRCh37
NC_000020.9:g.3011410_3011437del	NCBI36
NG_008663.1:g.6938_6965del , LRG_715:g.6938_6965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.338_365del MANE Select	ENSP00000369647.3:p.Glu113AlafsTer?
NM_000490.4:c.338_365del , LRG_715t1:c.338_365del	NP_000481.2:p.Glu113AlafsTer?
XM_011529267.1:c.338_365del	XP_011527569.1:p.Glu113AlafsTer?
XM_011529267.2:c.338_365del	XP_011527569.1:p.Glu113AlafsTer?
NM_000490.5:c.338_365del MANE Select	NP_000481.2:p.Glu113AlafsTer?