Canonical Allele Identifier: CA224212
Gene: MMAA HGNC NCBI

Linked Data

ClinVar Variation Id: 96532
ClinVar RCV Id: RCV000082687 RCV000509023
dbSNP Id: rs398124552
MyVariant Identifiers: chr4:g.146576363del (hg19) chr4:g.146576363delT (hg19) chr4:g.145655211del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145655211del , CM000666.2:g.145655211del GRCh38
NC_000004.11:g.146576363del , CM000666.1:g.146576363del GRCh37
NC_000004.10:g.146795813del NCBI36
NG_007536.1:g.40914del
NG_007536.2:g.61170del

Transcript Alleles

HGVS Amino-acid change
ENST00000541599.5:c.1034del ENSP00000442284.3:p.Phe345SerfsTer4
ENST00000647947.1:c.*818del ENSP00000496781.1:n.*818del
ENST00000648388.1:c.1034del ENSP00000497046.1:p.Phe345SerfsTer4
ENST00000649156.2:c.1034del MANE Select ENSP00000497008.1:p.Phe345SerfsTer4
ENST00000649173.1:c.968del ENSP00000497871.1:p.Phe323SerfsTer4
ENST00000649704.1:c.1034del ENSP00000497680.1:p.Phe345SerfsTer4
ENST00000679563.1:c.1034del ENSP00000506503.1:p.Phe345SerfsTer4
ENST00000679930.1:c.*553del ENSP00000506293.1:n.*553del
ENST00000281317.9:c.1034del ENSP00000281317.5:p.Phe345SerfsTer4
ENST00000503730.1:n.444del
ENST00000511969.4:c.*165del ENSP00000427422.1:n.*165del
ENST00000541599.4:c.1034del ENSP00000442284.2:p.Phe345SerfsTer4
NM_172250.2:c.1034del NP_758454.1:p.Phe345SerfsTer4
XM_011531684.1:c.1034del XP_011529986.1:p.Phe345SerfsTer4
XM_011531685.1:c.1034del XP_011529987.1:p.Phe345SerfsTer4
XM_011531686.1:c.539del XP_011529988.1:p.Phe180SerfsTer4
NM_172250.3:c.1034del MANE Select NP_758454.1:p.Phe345SerfsTer4
XM_011531684.3:c.1034del XP_011529986.1:p.Phe345SerfsTer4
XM_011531685.2:c.1034del XP_011529987.1:p.Phe345SerfsTer4
XM_011531686.2:c.539del XP_011529988.1:p.Phe180SerfsTer4
NM_001375644.1:c.1034del NP_001362573.1:p.Phe345SerfsTer4
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