Canonical Allele Identifier: CA2761038862
Gene: DTHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.36308587_36308590del , CM000666.2:g.36308587_36308590del GRCh38
NC_000004.11:g.36310209_36310212del , CM000666.1:g.36310209_36310212del GRCh37
NC_000004.10:g.35986604_35986607del NCBI36
NG_032962.1:g.31973_31976del

Transcript Alleles

HGVS Amino-acid Change
ENST00000639862.2:c.2095+94_2095+97del MANE Select ENSP00000492542.1:n.2095+94_2095+97del
ENST00000357504.7:c.1225+94_1225+97del ENSP00000350103.3:n.1225+94_1225+97del
ENST00000456874.3:c.1720+94_1720+97del ENSP00000401597.2:n.1720+94_1720+97del
ENST00000507598.5:c.1840+94_1840+97del ENSP00000424426.1:n.1840+94_1840+97del
NM_001136536.4:c.1225+94_1225+97del NP_001130008.2:n.1225+94_1225+97del
NM_001170700.2:c.1720+94_1720+97del NP_001164171.1:n.1720+94_1720+97del
XM_006714014.2:c.2095+94_2095+97del XP_006714077.1:n.2095+94_2095+97del
XM_011513693.1:c.2122+94_2122+97del XP_011511995.1:n.2122+94_2122+97del
XM_011513694.1:c.2059+94_2059+97del XP_011511996.1:n.2059+94_2059+97del
XM_011513695.1:c.1933+94_1933+97del XP_011511997.1:n.1933+94_1933+97del
XM_011513696.1:c.1252+94_1252+97del XP_011511998.1:n.1252+94_1252+97del
XM_006714014.3:c.2095+94_2095+97del XP_006714077.1:n.2095+94_2095+97del
XM_011513693.2:c.2122+94_2122+97del XP_011511995.1:n.2122+94_2122+97del
XM_011513694.2:c.2059+94_2059+97del XP_011511996.1:n.2059+94_2059+97del
XM_011513695.2:c.1933+94_1933+97del XP_011511997.1:n.1933+94_1933+97del
XM_011513696.2:c.1252+94_1252+97del XP_011511998.1:n.1252+94_1252+97del
XM_017008191.1:c.2122+94_2122+97del XP_016863680.1:n.2122+94_2122+97del
XM_017008192.1:c.2122+94_2122+97del XP_016863681.1:n.2122+94_2122+97del
XM_017008193.1:c.1643+13548_1643+13551del XP_016863682.1:n.1643+13548_1643+13551del
XR_001741217.1:n.2280+94_2280+97del
NM_001170700.3:c.2095+94_2095+97del MANE Select NP_001164171.2:n.2095+94_2095+97del
NR_160267.1:n.2257+94_2257+97del
NM_001136536.5:c.1225+94_1225+97del NP_001130008.2:n.1225+94_1225+97del
NM_001378435.1:c.1162+94_1162+97del NP_001365364.1:n.1162+94_1162+97del
NR_165630.1:n.2171+94_2171+97del