Canonical Allele Identifier: CA2670303059
Gene: DTHD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.36308557_36308565del , CM000666.2:g.36308557_36308565del GRCh38
NC_000004.11:g.36310179_36310187del , CM000666.1:g.36310179_36310187del GRCh37
NC_000004.10:g.35986574_35986582del NCBI36
NG_032962.1:g.31943_31951del

Transcript Alleles

HGVS Amino-acid Change
ENST00000639862.2:c.2095+64_2095+72del MANE Select ENSP00000492542.1:n.2095+64_2095+72del
ENST00000357504.7:c.1225+64_1225+72del ENSP00000350103.3:n.1225+64_1225+72del
ENST00000456874.3:c.1720+64_1720+72del ENSP00000401597.2:n.1720+64_1720+72del
ENST00000507598.5:c.1840+64_1840+72del ENSP00000424426.1:n.1840+64_1840+72del
NM_001136536.4:c.1225+64_1225+72del NP_001130008.2:n.1225+64_1225+72del
NM_001170700.2:c.1720+64_1720+72del NP_001164171.1:n.1720+64_1720+72del
XM_006714014.2:c.2095+64_2095+72del XP_006714077.1:n.2095+64_2095+72del
XM_011513693.1:c.2122+64_2122+72del XP_011511995.1:n.2122+64_2122+72del
XM_011513694.1:c.2059+64_2059+72del XP_011511996.1:n.2059+64_2059+72del
XM_011513695.1:c.1933+64_1933+72del XP_011511997.1:n.1933+64_1933+72del
XM_011513696.1:c.1252+64_1252+72del XP_011511998.1:n.1252+64_1252+72del
XM_006714014.3:c.2095+64_2095+72del XP_006714077.1:n.2095+64_2095+72del
XM_011513693.2:c.2122+64_2122+72del XP_011511995.1:n.2122+64_2122+72del
XM_011513694.2:c.2059+64_2059+72del XP_011511996.1:n.2059+64_2059+72del
XM_011513695.2:c.1933+64_1933+72del XP_011511997.1:n.1933+64_1933+72del
XM_011513696.2:c.1252+64_1252+72del XP_011511998.1:n.1252+64_1252+72del
XM_017008191.1:c.2122+64_2122+72del XP_016863680.1:n.2122+64_2122+72del
XM_017008192.1:c.2122+64_2122+72del XP_016863681.1:n.2122+64_2122+72del
XM_017008193.1:c.1643+13518_1643+13526del XP_016863682.1:n.1643+13518_1643+13526del
XR_001741217.1:n.2280+64_2280+72del
NM_001170700.3:c.2095+64_2095+72del MANE Select NP_001164171.2:n.2095+64_2095+72del
NR_160267.1:n.2257+64_2257+72del
NM_001136536.5:c.1225+64_1225+72del NP_001130008.2:n.1225+64_1225+72del
NM_001378435.1:c.1162+64_1162+72del NP_001365364.1:n.1162+64_1162+72del
NR_165630.1:n.2171+64_2171+72del