Canonical Allele Identifier: CA1479841036
Gene: ADH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99078284_99078296delinsCATATGAATAAAT , CM000666.2:g.99078284_99078296delinsCATATGAATAAAT GRCh38
NC_000004.11:g.99999435_99999447delinsCATATGAATAAAT , CM000666.1:g.99999435_99999447delinsCATATGAATAAAT GRCh37
NC_000004.10:g.100218458_100218470delinsCATATGAATAAAT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296412.14:c.345-1373_345-1361delinsATTTATTCATATG MANE Select ENSP00000296412.8:n.345-1373_345-1361delinsATTTATTCATATG
ENST00000296412.13:c.345-1373_345-1361delinsATTTATTCATATG ENSP00000296412.8:n.345-1373_345-1361delinsATTTATTCATATG
ENST00000296412.12:c.345-1373_345-1361delinsATTTATTCATATG ENSP00000296412.8:n.345-1373_345-1361delinsATTTATTCATATG
ENST00000502590.5:c.*25-1373_*25-1361delinsATTTATTCATATG ENSP00000422119.1:n.*25-1373_*25-1361delinsATTTATTCATATG
ENST00000503130.5:c.306-1373_306-1361delinsATTTATTCATATG ENSP00000427049.1:n.306-1373_306-1361delinsATTTATTCATATG
ENST00000505652.1:c.*169-1373_*169-1361delinsATTTATTCATATG ENSP00000421556.1:n.*169-1373_*169-1361delinsATTTATTCATATG
ENST00000508511.5:n.362-1373_362-1361delinsATTTATTCATATG
ENST00000512604.1:n.205-1373_205-1361delinsATTTATTCATATG
ENST00000512621.5:n.333-1373_333-1361delinsATTTATTCATATG
ENST00000512659.5:c.*32-1373_*32-1361delinsATTTATTCATATG ENSP00000424650.1:n.*32-1373_*32-1361delinsATTTATTCATATG
ENST00000512991.5:n.543-1373_543-1361delinsATTTATTCATATG
ENST00000626055.2:c.*32-1373_*32-1361delinsATTTATTCATATG ENSP00000487496.1:n.*32-1373_*32-1361delinsATTTATTCATATG
NM_000671.4:c.345-1373_345-1361delinsATTTATTCATATG MANE Select NP_000662.3:n.345-1373_345-1361delinsATTTATTCATATG