Canonical Allele Identifier: CA2761038858
Gene: DTHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.36308572_36308584del , CM000666.2:g.36308572_36308584del GRCh38
NC_000004.11:g.36310194_36310206del , CM000666.1:g.36310194_36310206del GRCh37
NC_000004.10:g.35986589_35986601del NCBI36
NG_032962.1:g.31958_31970del

Transcript Alleles

HGVS Amino-acid Change
ENST00000639862.2:c.2095+79_2095+91del MANE Select ENSP00000492542.1:n.2095+79_2095+91del
ENST00000357504.7:c.1225+79_1225+91del ENSP00000350103.3:n.1225+79_1225+91del
ENST00000456874.3:c.1720+79_1720+91del ENSP00000401597.2:n.1720+79_1720+91del
ENST00000507598.5:c.1840+79_1840+91del ENSP00000424426.1:n.1840+79_1840+91del
NM_001136536.4:c.1225+79_1225+91del NP_001130008.2:n.1225+79_1225+91del
NM_001170700.2:c.1720+79_1720+91del NP_001164171.1:n.1720+79_1720+91del
XM_006714014.2:c.2095+79_2095+91del XP_006714077.1:n.2095+79_2095+91del
XM_011513693.1:c.2122+79_2122+91del XP_011511995.1:n.2122+79_2122+91del
XM_011513694.1:c.2059+79_2059+91del XP_011511996.1:n.2059+79_2059+91del
XM_011513695.1:c.1933+79_1933+91del XP_011511997.1:n.1933+79_1933+91del
XM_011513696.1:c.1252+79_1252+91del XP_011511998.1:n.1252+79_1252+91del
XM_006714014.3:c.2095+79_2095+91del XP_006714077.1:n.2095+79_2095+91del
XM_011513693.2:c.2122+79_2122+91del XP_011511995.1:n.2122+79_2122+91del
XM_011513694.2:c.2059+79_2059+91del XP_011511996.1:n.2059+79_2059+91del
XM_011513695.2:c.1933+79_1933+91del XP_011511997.1:n.1933+79_1933+91del
XM_011513696.2:c.1252+79_1252+91del XP_011511998.1:n.1252+79_1252+91del
XM_017008191.1:c.2122+79_2122+91del XP_016863680.1:n.2122+79_2122+91del
XM_017008192.1:c.2122+79_2122+91del XP_016863681.1:n.2122+79_2122+91del
XM_017008193.1:c.1643+13533_1643+13545del XP_016863682.1:n.1643+13533_1643+13545del
XR_001741217.1:n.2280+79_2280+91del
NM_001170700.3:c.2095+79_2095+91del MANE Select NP_001164171.2:n.2095+79_2095+91del
NR_160267.1:n.2257+79_2257+91del
NM_001136536.5:c.1225+79_1225+91del NP_001130008.2:n.1225+79_1225+91del
NM_001378435.1:c.1162+79_1162+91del NP_001365364.1:n.1162+79_1162+91del
NR_165630.1:n.2171+79_2171+91del