Canonical Allele Identifier: CA2742880074
Gene: MACO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25449244_25449248del , CM000663.2:g.25449244_25449248del GRCh38
NC_000001.10:g.25775735_25775739del , CM000663.1:g.25775735_25775739del GRCh37
NC_000001.9:g.25648322_25648326del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000374343.5:c.349+310_349+314del MANE Select ENSP00000363463.4:n.349+310_349+314del
ENST00000647928.1:c.349+310_349+314del ENSP00000497738.1:n.349+310_349+314del
ENST00000374343.4:c.349+310_349+314del ENSP00000363463.4:n.349+310_349+314del
ENST00000399766.7:c.349+310_349+314del ENSP00000382668.3:n.349+310_349+314del
ENST00000470035.1:n.42+310_42+314del
NM_001282564.1:c.349+310_349+314del NP_001269493.1:n.349+310_349+314del
NM_018202.5:c.349+310_349+314del NP_060672.2:n.349+310_349+314del
XM_005245931.1:c.349+310_349+314del XP_005245988.1:n.349+310_349+314del
XM_011541704.1:c.-263+310_-263+314del XP_011540006.1:n.-263+310_-263+314del
XM_005245931.2:c.349+310_349+314del XP_005245988.1:n.349+310_349+314del
XM_011541704.3:c.-263+310_-263+314del XP_011540006.1:n.-263+310_-263+314del
NM_018202.6:c.349+310_349+314del MANE Select NP_060672.2:n.349+310_349+314del
NM_001282564.2:c.349+310_349+314del NP_001269493.1:n.349+310_349+314del