Canonical Allele Identifier: CA2041545497
Gene: AVPR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146925_63146927delinsCAT , CM000674.2:g.63146925_63146927delinsCAT GRCh38
NC_000012.11:g.63540705_63540707delinsCAT , CM000674.1:g.63540705_63540707delinsCAT GRCh37
NC_000012.10:g.61826972_61826974delinsCAT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*432_*434delinsATG MANE Select ENSP00000299178.3:n.*432_*434delinsATG
ENST00000299178.3:c.*432_*434delinsATG ENSP00000299178.2:n.*432_*434delinsATG
ENST00000550940.1:c.538+494_538+496delinsATG ENSP00000449822.1:n.538+494_538+496delinsATG
NM_000706.4:c.*432_*434delinsATG NP_000697.1:n.*432_*434delinsATG
XM_005269002.3:c.*432_*434delinsATG XP_005269059.1:n.*432_*434delinsATG
NM_000706.5:c.*432_*434delinsATG MANE Select NP_000697.1:n.*432_*434delinsATG