Canonical Allele Identifier: CA2761038779
Gene: DTHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.36308511_36308512insACA , CM000666.2:g.36308511_36308512insACA GRCh38
NC_000004.11:g.36310133_36310134insACA , CM000666.1:g.36310133_36310134insACA GRCh37
NC_000004.10:g.35986528_35986529insACA NCBI36
NG_032962.1:g.31897_31898insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000639862.2:c.2095+18_2095+19insACA MANE Select ENSP00000492542.1:n.2095+18_2095+19insACA
ENST00000357504.7:c.1225+18_1225+19insACA ENSP00000350103.3:n.1225+18_1225+19insACA
ENST00000456874.3:c.1720+18_1720+19insACA ENSP00000401597.2:n.1720+18_1720+19insACA
ENST00000507598.5:c.1840+18_1840+19insACA ENSP00000424426.1:n.1840+18_1840+19insACA
NM_001136536.4:c.1225+18_1225+19insACA NP_001130008.2:n.1225+18_1225+19insACA
NM_001170700.2:c.1720+18_1720+19insACA NP_001164171.1:n.1720+18_1720+19insACA
XM_006714014.2:c.2095+18_2095+19insACA XP_006714077.1:n.2095+18_2095+19insACA
XM_011513693.1:c.2122+18_2122+19insACA XP_011511995.1:n.2122+18_2122+19insACA
XM_011513694.1:c.2059+18_2059+19insACA XP_011511996.1:n.2059+18_2059+19insACA
XM_011513695.1:c.1933+18_1933+19insACA XP_011511997.1:n.1933+18_1933+19insACA
XM_011513696.1:c.1252+18_1252+19insACA XP_011511998.1:n.1252+18_1252+19insACA
XM_006714014.3:c.2095+18_2095+19insACA XP_006714077.1:n.2095+18_2095+19insACA
XM_011513693.2:c.2122+18_2122+19insACA XP_011511995.1:n.2122+18_2122+19insACA
XM_011513694.2:c.2059+18_2059+19insACA XP_011511996.1:n.2059+18_2059+19insACA
XM_011513695.2:c.1933+18_1933+19insACA XP_011511997.1:n.1933+18_1933+19insACA
XM_011513696.2:c.1252+18_1252+19insACA XP_011511998.1:n.1252+18_1252+19insACA
XM_017008191.1:c.2122+18_2122+19insACA XP_016863680.1:n.2122+18_2122+19insACA
XM_017008192.1:c.2122+18_2122+19insACA XP_016863681.1:n.2122+18_2122+19insACA
XM_017008193.1:c.1643+13472_1643+13473insACA XP_016863682.1:n.1643+13472_1643+13473insACA
XR_001741217.1:n.2280+18_2280+19insACA
NM_001170700.3:c.2095+18_2095+19insACA MANE Select NP_001164171.2:n.2095+18_2095+19insACA
NR_160267.1:n.2257+18_2257+19insACA
NM_001136536.5:c.1225+18_1225+19insACA NP_001130008.2:n.1225+18_1225+19insACA
NM_001378435.1:c.1162+18_1162+19insACA NP_001365364.1:n.1162+18_1162+19insACA
NR_165630.1:n.2171+18_2171+19insACA