Canonical Allele Identifier: CA2761038848
Gene: DTHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.36308543_36308544insACA , CM000666.2:g.36308543_36308544insACA GRCh38
NC_000004.11:g.36310165_36310166insACA , CM000666.1:g.36310165_36310166insACA GRCh37
NC_000004.10:g.35986560_35986561insACA NCBI36
NG_032962.1:g.31929_31930insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000639862.2:c.2095+50_2095+51insACA MANE Select ENSP00000492542.1:n.2095+50_2095+51insACA
ENST00000357504.7:c.1225+50_1225+51insACA ENSP00000350103.3:n.1225+50_1225+51insACA
ENST00000456874.3:c.1720+50_1720+51insACA ENSP00000401597.2:n.1720+50_1720+51insACA
ENST00000507598.5:c.1840+50_1840+51insACA ENSP00000424426.1:n.1840+50_1840+51insACA
NM_001136536.4:c.1225+50_1225+51insACA NP_001130008.2:n.1225+50_1225+51insACA
NM_001170700.2:c.1720+50_1720+51insACA NP_001164171.1:n.1720+50_1720+51insACA
XM_006714014.2:c.2095+50_2095+51insACA XP_006714077.1:n.2095+50_2095+51insACA
XM_011513693.1:c.2122+50_2122+51insACA XP_011511995.1:n.2122+50_2122+51insACA
XM_011513694.1:c.2059+50_2059+51insACA XP_011511996.1:n.2059+50_2059+51insACA
XM_011513695.1:c.1933+50_1933+51insACA XP_011511997.1:n.1933+50_1933+51insACA
XM_011513696.1:c.1252+50_1252+51insACA XP_011511998.1:n.1252+50_1252+51insACA
XM_006714014.3:c.2095+50_2095+51insACA XP_006714077.1:n.2095+50_2095+51insACA
XM_011513693.2:c.2122+50_2122+51insACA XP_011511995.1:n.2122+50_2122+51insACA
XM_011513694.2:c.2059+50_2059+51insACA XP_011511996.1:n.2059+50_2059+51insACA
XM_011513695.2:c.1933+50_1933+51insACA XP_011511997.1:n.1933+50_1933+51insACA
XM_011513696.2:c.1252+50_1252+51insACA XP_011511998.1:n.1252+50_1252+51insACA
XM_017008191.1:c.2122+50_2122+51insACA XP_016863680.1:n.2122+50_2122+51insACA
XM_017008192.1:c.2122+50_2122+51insACA XP_016863681.1:n.2122+50_2122+51insACA
XM_017008193.1:c.1643+13504_1643+13505insACA XP_016863682.1:n.1643+13504_1643+13505insACA
XR_001741217.1:n.2280+50_2280+51insACA
NM_001170700.3:c.2095+50_2095+51insACA MANE Select NP_001164171.2:n.2095+50_2095+51insACA
NR_160267.1:n.2257+50_2257+51insACA
NM_001136536.5:c.1225+50_1225+51insACA NP_001130008.2:n.1225+50_1225+51insACA
NM_001378435.1:c.1162+50_1162+51insACA NP_001365364.1:n.1162+50_1162+51insACA
NR_165630.1:n.2171+50_2171+51insACA