Canonical Allele Identifier: CA2761038803
Gene: DTHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.36308521_36308527del , CM000666.2:g.36308521_36308527del GRCh38
NC_000004.11:g.36310143_36310149del , CM000666.1:g.36310143_36310149del GRCh37
NC_000004.10:g.35986538_35986544del NCBI36
NG_032962.1:g.31907_31913del

Transcript Alleles

HGVS Amino-acid Change
ENST00000639862.2:c.2095+28_2095+34del MANE Select ENSP00000492542.1:n.2095+28_2095+34del
ENST00000357504.7:c.1225+28_1225+34del ENSP00000350103.3:n.1225+28_1225+34del
ENST00000456874.3:c.1720+28_1720+34del ENSP00000401597.2:n.1720+28_1720+34del
ENST00000507598.5:c.1840+28_1840+34del ENSP00000424426.1:n.1840+28_1840+34del
NM_001136536.4:c.1225+28_1225+34del NP_001130008.2:n.1225+28_1225+34del
NM_001170700.2:c.1720+28_1720+34del NP_001164171.1:n.1720+28_1720+34del
XM_006714014.2:c.2095+28_2095+34del XP_006714077.1:n.2095+28_2095+34del
XM_011513693.1:c.2122+28_2122+34del XP_011511995.1:n.2122+28_2122+34del
XM_011513694.1:c.2059+28_2059+34del XP_011511996.1:n.2059+28_2059+34del
XM_011513695.1:c.1933+28_1933+34del XP_011511997.1:n.1933+28_1933+34del
XM_011513696.1:c.1252+28_1252+34del XP_011511998.1:n.1252+28_1252+34del
XM_006714014.3:c.2095+28_2095+34del XP_006714077.1:n.2095+28_2095+34del
XM_011513693.2:c.2122+28_2122+34del XP_011511995.1:n.2122+28_2122+34del
XM_011513694.2:c.2059+28_2059+34del XP_011511996.1:n.2059+28_2059+34del
XM_011513695.2:c.1933+28_1933+34del XP_011511997.1:n.1933+28_1933+34del
XM_011513696.2:c.1252+28_1252+34del XP_011511998.1:n.1252+28_1252+34del
XM_017008191.1:c.2122+28_2122+34del XP_016863680.1:n.2122+28_2122+34del
XM_017008192.1:c.2122+28_2122+34del XP_016863681.1:n.2122+28_2122+34del
XM_017008193.1:c.1643+13482_1643+13488del XP_016863682.1:n.1643+13482_1643+13488del
XR_001741217.1:n.2280+28_2280+34del
NM_001170700.3:c.2095+28_2095+34del MANE Select NP_001164171.2:n.2095+28_2095+34del
NR_160267.1:n.2257+28_2257+34del
NM_001136536.5:c.1225+28_1225+34del NP_001130008.2:n.1225+28_1225+34del
NM_001378435.1:c.1162+28_1162+34del NP_001365364.1:n.1162+28_1162+34del
NR_165630.1:n.2171+28_2171+34del