Canonical Allele Identifier: CA9699550
Gene: VN1R1 HGNC NCBI

Linked Data

ClinVar Variation Id: 712016
ClinVar RCV Id: RCV000883861
dbSNP Id: rs200574657
ExAC: 19:57967639 TAA / T
gnomAD v2: 19-57967639-TAA-T
gnomAD v3: 19-57456271-TAA-T
gnomAD v4: 19-57456271-TAA-T
MyVariant Identifiers: chr19:g.57967640_57967641del (hg19) chr19:g.57456272_57456273del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57456272_57456273del , CM000681.2:g.57456272_57456273del GRCh38
NC_000019.9:g.57967640_57967641del , CM000681.1:g.57967640_57967641del GRCh37
NC_000019.8:g.62659452_62659453del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321039.5:c.214_215del MANE Select ENSP00000322339.3:p.Leu72AsnfsTer22
ENST00000321039.4:c.214_215del ENSP00000322339.3:p.Leu72AsnfsTer22
ENST00000415705.3:n.300-91_300-90del
ENST00000596831.1:c.200-91_200-90del ENSP00000470969.1:n.200-91_200-90del
NM_020633.3:c.214_215del NP_065684.1:p.Leu72AsnfsTer22
NM_020633.4:c.214_215del MANE Select NP_065684.1:p.Leu72AsnfsTer22
Search 100 bp 5'
Search 100 bp 3'