Canonical Allele Identifier: CA2619595423
Gene: AVPR1A HGNC NCBI

Linked Data

gnomAD v4: 12-63146720-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146724del , CM000674.2:g.63146724del GRCh38
NC_000012.11:g.63540504del , CM000674.1:g.63540504del GRCh37
NC_000012.10:g.61826771del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000299178.4:c.*638del MANE Select ENSP00000299178.3:n.*638del
ENST00000299178.3:c.*638del ENSP00000299178.2:n.*638del
ENST00000550940.1:c.538+700del ENSP00000449822.1:n.538+700del
NM_000706.4:c.*638del NP_000697.1:n.*638del
XM_005269002.3:c.*638del XP_005269059.1:n.*638del
NM_000706.5:c.*638del MANE Select NP_000697.1:n.*638del
Search 100 bp 5'
Search 100 bp 3'