Canonical Allele Identifier: CA1159655859
Gene: MACO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25449281_25449289delinsTCATTGAAA , CM000663.2:g.25449281_25449289delinsTCATTGAAA GRCh38
NC_000001.10:g.25775772_25775780delinsTCATTGAAA , CM000663.1:g.25775772_25775780delinsTCATTGAAA GRCh37
NC_000001.9:g.25648359_25648367delinsTCATTGAAA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000374343.5:c.349+347_349+355delinsTCATTGAAA MANE Select ENSP00000363463.4:n.349+347_349+355delinsTCATTGAAA
ENST00000647928.1:c.349+347_349+355delinsTCATTGAAA ENSP00000497738.1:n.349+347_349+355delinsTCATTGAAA
ENST00000374343.4:c.349+347_349+355delinsTCATTGAAA ENSP00000363463.4:n.349+347_349+355delinsTCATTGAAA
ENST00000399766.7:c.349+347_349+355delinsTCATTGAAA ENSP00000382668.3:n.349+347_349+355delinsTCATTGAAA
ENST00000470035.1:n.42+347_42+355delinsTCATTGAAA
NM_001282564.1:c.349+347_349+355delinsTCATTGAAA NP_001269493.1:n.349+347_349+355delinsTCATTGAAA
NM_018202.5:c.349+347_349+355delinsTCATTGAAA NP_060672.2:n.349+347_349+355delinsTCATTGAAA
XM_005245931.1:c.349+347_349+355delinsTCATTGAAA XP_005245988.1:n.349+347_349+355delinsTCATTGAAA
XM_011541704.1:c.-263+347_-263+355delinsTCATTGAAA XP_011540006.1:n.-263+347_-263+355delinsTCATTGAAA
XM_005245931.2:c.349+347_349+355delinsTCATTGAAA XP_005245988.1:n.349+347_349+355delinsTCATTGAAA
XM_011541704.3:c.-263+347_-263+355delinsTCATTGAAA XP_011540006.1:n.-263+347_-263+355delinsTCATTGAAA
NM_018202.6:c.349+347_349+355delinsTCATTGAAA MANE Select NP_060672.2:n.349+347_349+355delinsTCATTGAAA
NM_001282564.2:c.349+347_349+355delinsTCATTGAAA NP_001269493.1:n.349+347_349+355delinsTCATTGAAA