Canonical Allele Identifier: CA2485643397
Gene: FLVCR1 HGNC NCBI

Linked Data

dbSNP Id: rs1664971931
gnomAD v4: 1-212883387-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.212883391del , CM000663.2:g.212883391del GRCh38
NC_000001.10:g.213056733del , CM000663.1:g.213056733del GRCh37
NC_000001.9:g.211123356del NCBI36
NG_028131.1:g.30137del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366971.9:c.1045del MANE Select ENSP00000355938.4:p.Tyr349IlefsTer7
ENST00000366971.8:c.1045del ENSP00000355938.4:p.Tyr349IlefsTer7
ENST00000419102.1:c.441del
ENST00000474693.1:n.270del
NM_014053.3:c.1045del NP_054772.1:p.Tyr349IlefsTer7
XM_011509446.1:c.1045del XP_011507748.1:p.Tyr349IlefsTer7
XR_247024.1:n.1219del
XR_426771.1:n.1346del
XM_011509446.3:c.1045del XP_011507748.1:p.Tyr349IlefsTer7
XR_247024.3:n.1219del
NM_014053.4:c.1045del MANE Select NP_054772.1:p.Tyr349IlefsTer7
Search 100 bp 5'
Search 100 bp 3'