Canonical Allele Identifier: CA017116
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 183044
ClinVar RCV Id: RCV000161913
dbSNP Id: rs730882142
ExAC: 11:119212372 GCAGA / G
gnomAD v2: 11-119212372-GCAGA-G
gnomAD v4: 11-119341662-GCAGA-G
MyVariant Identifiers: chr11:g.119212373_119212376del (hg19) chr11:g.119341663_119341666del (hg38)
PubMed: PMID:20361016
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341667_119341670del , CM000673.2:g.119341667_119341670del GRCh38
NC_000011.9:g.119212377_119212380del , CM000673.1:g.119212377_119212380del GRCh37
NC_000011.8:g.118717587_118717590del NCBI36
NG_012235.1:g.10008_10011del

Transcript Alleles

HGVS Amino-acid change
ENST00000619721.6:c.1622_1625del (MFRP) MANE Select ENSP00000481824.1:p.Val541AlafsTer?
ENST00000360167.4:c.1268_1271del (MFRP) ENSP00000353291.4:p.Val423AlafsTer?
ENST00000449574.7:c.493_496del (MFRP)
ENST00000619721.5:c.1622_1625del (MFRP) ENSP00000481824.1:p.Val541AlafsTer?
NM_015645.4:c.-1015_-1012del (C1QTNF5) NP_056460.1:n.-1015_-1012del
NM_031433.3:c.1622_1625del (MFRP) NP_113621.1:p.Val541AlafsTer?
NM_031433.4:c.1622_1625del (MFRP) MANE Select NP_113621.1:p.Val541AlafsTer?
NM_015645.5:c.-1015_-1012del (C1QTNF5) NP_056460.1:n.-1015_-1012del
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