Canonical Allele Identifier: CA2041545542

Gene: AVPR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.63146975_63146977delinsCTT , CM000674.2:g.63146975_63146977delinsCTT	GRCh38
NC_000012.11:g.63540755_63540757delinsCTT , CM000674.1:g.63540755_63540757delinsCTT	GRCh37
NC_000012.10:g.61827022_61827024delinsCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299178.4:c.*382_*384delinsAAG MANE Select	ENSP00000299178.3:n.*382_*384delinsAAG
ENST00000299178.3:c.*382_*384delinsAAG	ENSP00000299178.2:n.*382_*384delinsAAG
ENST00000550940.1:c.538+444_538+446delinsAAG	ENSP00000449822.1:n.538+444_538+446delinsAAG
NM_000706.4:c.*382_*384delinsAAG	NP_000697.1:n.*382_*384delinsAAG
XM_005269002.3:c.*382_*384delinsAAG	XP_005269059.1:n.*382_*384delinsAAG
NM_000706.5:c.*382_*384delinsAAG MANE Select	NP_000697.1:n.*382_*384delinsAAG