Canonical Allele Identifier: CA16043324
Gene: GPR143 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373042
ClinVar RCV Id: RCV000413533
dbSNP Id: rs1057518164

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.9765653_9765660del , CM000685.2:g.9765653_9765660del GRCh38
NC_000023.10:g.9733693_9733700del , CM000685.1:g.9733693_9733700del GRCh37
NC_000023.9:g.9693693_9693700del NCBI36
NG_009074.1:g.5223_5230del

Transcript Alleles

HGVS Amino-acid change
NM_000273.2:c.163_170del VV NP_000264.2:p.Ala55ArgfsTer?
XM_005274541.2:c.163_170del XP_005274598.1:p.Ala55ArgfsTer?
XM_005274541.3:c.163_170del
XM_024452387.1:c.-2-4829_-2-4822del XP_024308155.1:p.=
XM_024452388.1:c.-2-4829_-2-4822del XP_024308156.1:p.=
NM_000273.3:c.163_170del VV MANE Preferred
ENST00000431126.1:c.-3+465_-3+472del ENSP00000406138.1:p.=
ENST00000447366.5:c.-2-4829_-2-4822del ENSP00000390546.2:p.=
ENST00000467482.5:c.163_170del ENSP00000417161.1:p.Ala55ArgfsTer?