Canonical Allele Identifier: CA2761038825
Gene: DTHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.36308530_36308531insACA , CM000666.2:g.36308530_36308531insACA GRCh38
NC_000004.11:g.36310152_36310153insACA , CM000666.1:g.36310152_36310153insACA GRCh37
NC_000004.10:g.35986547_35986548insACA NCBI36
NG_032962.1:g.31916_31917insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000639862.2:c.2095+37_2095+38insACA MANE Select ENSP00000492542.1:n.2095+37_2095+38insACA
ENST00000357504.7:c.1225+37_1225+38insACA ENSP00000350103.3:n.1225+37_1225+38insACA
ENST00000456874.3:c.1720+37_1720+38insACA ENSP00000401597.2:n.1720+37_1720+38insACA
ENST00000507598.5:c.1840+37_1840+38insACA ENSP00000424426.1:n.1840+37_1840+38insACA
NM_001136536.4:c.1225+37_1225+38insACA NP_001130008.2:n.1225+37_1225+38insACA
NM_001170700.2:c.1720+37_1720+38insACA NP_001164171.1:n.1720+37_1720+38insACA
XM_006714014.2:c.2095+37_2095+38insACA XP_006714077.1:n.2095+37_2095+38insACA
XM_011513693.1:c.2122+37_2122+38insACA XP_011511995.1:n.2122+37_2122+38insACA
XM_011513694.1:c.2059+37_2059+38insACA XP_011511996.1:n.2059+37_2059+38insACA
XM_011513695.1:c.1933+37_1933+38insACA XP_011511997.1:n.1933+37_1933+38insACA
XM_011513696.1:c.1252+37_1252+38insACA XP_011511998.1:n.1252+37_1252+38insACA
XM_006714014.3:c.2095+37_2095+38insACA XP_006714077.1:n.2095+37_2095+38insACA
XM_011513693.2:c.2122+37_2122+38insACA XP_011511995.1:n.2122+37_2122+38insACA
XM_011513694.2:c.2059+37_2059+38insACA XP_011511996.1:n.2059+37_2059+38insACA
XM_011513695.2:c.1933+37_1933+38insACA XP_011511997.1:n.1933+37_1933+38insACA
XM_011513696.2:c.1252+37_1252+38insACA XP_011511998.1:n.1252+37_1252+38insACA
XM_017008191.1:c.2122+37_2122+38insACA XP_016863680.1:n.2122+37_2122+38insACA
XM_017008192.1:c.2122+37_2122+38insACA XP_016863681.1:n.2122+37_2122+38insACA
XM_017008193.1:c.1643+13491_1643+13492insACA XP_016863682.1:n.1643+13491_1643+13492insACA
XR_001741217.1:n.2280+37_2280+38insACA
NM_001170700.3:c.2095+37_2095+38insACA MANE Select NP_001164171.2:n.2095+37_2095+38insACA
NR_160267.1:n.2257+37_2257+38insACA
NM_001136536.5:c.1225+37_1225+38insACA NP_001130008.2:n.1225+37_1225+38insACA
NM_001378435.1:c.1162+37_1162+38insACA NP_001365364.1:n.1162+37_1162+38insACA
NR_165630.1:n.2171+37_2171+38insACA