Canonical Allele Identifier: CA1278275
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs747261020
ExAC: 1:182555467 CCTTT / C
gnomAD v2: 1-182555467-CCTTT-C
gnomAD v3: 1-182586332-CCTTT-C
gnomAD v4: 1-182586332-CCTTT-C
MyVariant Identifiers: chr1:g.182555468_182555471del (hg19) chr1:g.182586333_182586336del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586333_182586336del , CM000663.2:g.182586333_182586336del GRCh38
NC_000001.10:g.182555468_182555471del , CM000663.1:g.182555468_182555471del GRCh37
NC_000001.9:g.180822091_180822094del NCBI36
NG_009024.2:g.5638_5641del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.471_474del MANE Select ENSP00000356530.3:p.Lys158ArgfsTer6
ENST00000539397.1:c.471_474del ENSP00000440844.1:p.Lys158ArgfsTer6
NM_021133.3:c.471_474del NP_066956.1:p.Lys158ArgfsTer6
XM_005245411.2:c.471_474del XP_005245468.1:p.Lys158ArgfsTer6
XR_001737359.1:n.754_757del
XR_001737360.1:n.754_757del
NM_021133.4:c.471_474del MANE Select NP_066956.1:p.Lys158ArgfsTer6
Search 100 bp 5'
Search 100 bp 3'