Canonical Allele Identifier: CA3095149
Gene: MMAA HGNC NCBI

Linked Data

ClinVar Variation Id: 440799
ClinVar RCV Id: RCV000509035
dbSNP Id: rs780082584

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145639437_145639451del , CM000666.2:g.145639437_145639451del GRCh38
NC_000004.11:g.146560589_146560603del , CM000666.1:g.146560589_146560603del GRCh37
NC_000004.10:g.146780039_146780053del NCBI36
NG_007536.1:g.25140_25154del
NG_007536.2:g.45396_45410del

Transcript Alleles

HGVS Amino-acid Change
ENST00000541599.5:c.298_312del ENSP00000442284.3:p.Cys100_Ala104del
ENST00000647947.1:c.298_312del ENSP00000496781.1:p.Cys100_Ala104del
ENST00000648388.1:c.298_312del ENSP00000497046.1:p.Cys100_Ala104del
ENST00000649156.2:c.298_312del MANE Select ENSP00000497008.1:p.Cys100_Ala104del
ENST00000649173.1:c.298_312del ENSP00000497871.1:p.Cys100_Ala104del
ENST00000649704.1:c.298_312del ENSP00000497680.1:p.Cys100_Ala104del
ENST00000679563.1:c.298_312del ENSP00000506503.1:p.Cys100_Ala104del
ENST00000679930.1:c.298_312del ENSP00000506293.1:p.Cys100_Ala104del
ENST00000281317.9:c.298_312del ENSP00000281317.5:p.Cys100_Ala104del
ENST00000506919.1:n.786_800del
ENST00000511969.4:c.298_312del ENSP00000427422.1:p.Cys100_Ala104del
ENST00000541599.4:c.298_312del ENSP00000442284.2:p.Cys100_Ala104del
NM_172250.2:c.298_312del NP_758454.1:p.Cys100_Ala104del
XM_011531684.1:c.298_312del XP_011529986.1:p.Cys100_Ala104del
XM_011531685.1:c.298_312del XP_011529987.1:p.Cys100_Ala104del
NM_172250.3:c.298_312del MANE Select NP_758454.1:p.Cys100_Ala104del
XM_011531684.3:c.298_312del XP_011529986.1:p.Cys100_Ala104del
XM_011531685.2:c.298_312del XP_011529987.1:p.Cys100_Ala104del
XM_011531686.2:c.-486_-472del XP_011529988.1:n.-486_-472del
NM_001375644.1:c.298_312del NP_001362573.1:p.Cys100_Ala104del