Canonical Allele Identifier: CA238786805
Gene: AVPR1A HGNC NCBI

Linked Data

dbSNP Id: rs950583737
gnomAD v3: 12-63146846-T-TA
gnomAD v4: 12-63146846-T-TA
MyVariant Identifiers: chr12:g.63540626_63540627insA (hg19) chr12:g.63146846_63146847insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146847dup , CM000674.2:g.63146847dup GRCh38
NC_000012.11:g.63540627dup , CM000674.1:g.63540627dup GRCh37
NC_000012.10:g.61826894dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*512dup MANE Select ENSP00000299178.3:n.*512dup
ENST00000299178.3:c.*512dup ENSP00000299178.2:n.*512dup
ENST00000550940.1:c.538+574dup ENSP00000449822.1:n.538+574dup
NM_000706.4:c.*512dup NP_000697.1:n.*512dup
XM_005269002.3:c.*512dup XP_005269059.1:n.*512dup
NM_000706.5:c.*512dup MANE Select NP_000697.1:n.*512dup
Search 100 bp 5'
Search 100 bp 3'