Canonical Allele Identifier: CA16618444
Gene: MNX1 HGNC NCBI
MNX1-AS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423860
ClinVar RCV Id: RCV000487416
dbSNP Id: rs1064796665
MyVariant Identifiers: chr7:g.156799214del (hg19) chr7:g.157006520del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.157006520del , CM000669.2:g.157006520del GRCh38
NC_000007.13:g.156799214del , CM000669.1:g.156799214del GRCh37
NC_000007.12:g.156491975del NCBI36
NG_013212.1:g.9134del

Transcript Alleles

HGVS Amino-acid change
ENST00000252971.11:c.811del (MNX1) MANE Select ENSP00000252971.5:p.Arg271AlafsTer15
ENST00000252971.10:c.811del (MNX1) ENSP00000252971.5:p.Arg271AlafsTer15
ENST00000425745.1:c.56-647del (MNX1) ENSP00000416458.1:n.56-647del
ENST00000428439.1:c.175del (MNX1) ENSP00000401158.1:p.Arg59AlafsTer15
ENST00000469500.5:c.55+2478del (MNX1) ENSP00000475129.1:n.55+2478del
ENST00000474448.1:c.*213del (MNX1) ENSP00000473965.1:n.*213del
ENST00000479817.1:c.38+3140del (MNX1)
ENST00000543409.5:c.175del (MNX1) ENSP00000438552.1:p.Arg59AlafsTer15
NM_001165255.1:c.175del (MNX1) NP_001158727.1:p.Arg59AlafsTer15
NM_005515.3:c.811del (MNX1) NP_005506.3:p.Arg271AlafsTer15
XR_928257.1:n.544+96del (MNX1-AS2)
NR_147077.1:n.118+96del (MNX1-AS2)
NM_005515.4:c.811del (MNX1) MANE Select NP_005506.3:p.Arg271AlafsTer15
NM_001165255.2:c.175del (MNX1) NP_001158727.1:p.Arg59AlafsTer15
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