Canonical Allele Identifier: CA2346405345

Gene: AVP

Linked Data

• dbSNP Id: rs2066116875
• gnomAD v4: 20-3082789-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3082789_3082790insA , CM000682.2:g.3082789_3082790insA	GRCh38
NC_000020.10:g.3063435_3063436insA , CM000682.1:g.3063435_3063436insA	GRCh37
NC_000020.9:g.3011435_3011436insA	NCBI36
NG_008663.1:g.6935_6936insT , LRG_715:g.6935_6936insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.335_336insT MANE Select	ENSP00000369647.3:p.Glu113ArgfsTer?
NM_000490.4:c.335_336insT , LRG_715t1:c.335_336insT	NP_000481.2:p.Glu113ArgfsTer?
XM_011529267.1:c.335_336insT	XP_011527569.1:p.Glu113ArgfsTer?
XM_011529267.2:c.335_336insT	XP_011527569.1:p.Glu113ArgfsTer?
NM_000490.5:c.335_336insT MANE Select	NP_000481.2:p.Glu113ArgfsTer?