Canonical Allele Identifier: CA2761038814
Gene: DTHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.36308527_36308538del , CM000666.2:g.36308527_36308538del GRCh38
NC_000004.11:g.36310149_36310160del , CM000666.1:g.36310149_36310160del GRCh37
NC_000004.10:g.35986544_35986555del NCBI36
NG_032962.1:g.31913_31924del

Transcript Alleles

HGVS Amino-acid Change
ENST00000639862.2:c.2095+34_2095+45del MANE Select ENSP00000492542.1:n.2095+34_2095+45del
ENST00000357504.7:c.1225+34_1225+45del ENSP00000350103.3:n.1225+34_1225+45del
ENST00000456874.3:c.1720+34_1720+45del ENSP00000401597.2:n.1720+34_1720+45del
ENST00000507598.5:c.1840+34_1840+45del ENSP00000424426.1:n.1840+34_1840+45del
NM_001136536.4:c.1225+34_1225+45del NP_001130008.2:n.1225+34_1225+45del
NM_001170700.2:c.1720+34_1720+45del NP_001164171.1:n.1720+34_1720+45del
XM_006714014.2:c.2095+34_2095+45del XP_006714077.1:n.2095+34_2095+45del
XM_011513693.1:c.2122+34_2122+45del XP_011511995.1:n.2122+34_2122+45del
XM_011513694.1:c.2059+34_2059+45del XP_011511996.1:n.2059+34_2059+45del
XM_011513695.1:c.1933+34_1933+45del XP_011511997.1:n.1933+34_1933+45del
XM_011513696.1:c.1252+34_1252+45del XP_011511998.1:n.1252+34_1252+45del
XM_006714014.3:c.2095+34_2095+45del XP_006714077.1:n.2095+34_2095+45del
XM_011513693.2:c.2122+34_2122+45del XP_011511995.1:n.2122+34_2122+45del
XM_011513694.2:c.2059+34_2059+45del XP_011511996.1:n.2059+34_2059+45del
XM_011513695.2:c.1933+34_1933+45del XP_011511997.1:n.1933+34_1933+45del
XM_011513696.2:c.1252+34_1252+45del XP_011511998.1:n.1252+34_1252+45del
XM_017008191.1:c.2122+34_2122+45del XP_016863680.1:n.2122+34_2122+45del
XM_017008192.1:c.2122+34_2122+45del XP_016863681.1:n.2122+34_2122+45del
XM_017008193.1:c.1643+13488_1643+13499del XP_016863682.1:n.1643+13488_1643+13499del
XR_001741217.1:n.2280+34_2280+45del
NM_001170700.3:c.2095+34_2095+45del MANE Select NP_001164171.2:n.2095+34_2095+45del
NR_160267.1:n.2257+34_2257+45del
NM_001136536.5:c.1225+34_1225+45del NP_001130008.2:n.1225+34_1225+45del
NM_001378435.1:c.1162+34_1162+45del NP_001365364.1:n.1162+34_1162+45del
NR_165630.1:n.2171+34_2171+45del