Canonical Allele Identifier: CA2761038816
Gene: DTHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.36308527_36308528insA , CM000666.2:g.36308527_36308528insA GRCh38
NC_000004.11:g.36310149_36310150insA , CM000666.1:g.36310149_36310150insA GRCh37
NC_000004.10:g.35986544_35986545insA NCBI36
NG_032962.1:g.31913_31914insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000639862.2:c.2095+34_2095+35insA MANE Select ENSP00000492542.1:n.2095+34_2095+35insA
ENST00000357504.7:c.1225+34_1225+35insA ENSP00000350103.3:n.1225+34_1225+35insA
ENST00000456874.3:c.1720+34_1720+35insA ENSP00000401597.2:n.1720+34_1720+35insA
ENST00000507598.5:c.1840+34_1840+35insA ENSP00000424426.1:n.1840+34_1840+35insA
NM_001136536.4:c.1225+34_1225+35insA NP_001130008.2:n.1225+34_1225+35insA
NM_001170700.2:c.1720+34_1720+35insA NP_001164171.1:n.1720+34_1720+35insA
XM_006714014.2:c.2095+34_2095+35insA XP_006714077.1:n.2095+34_2095+35insA
XM_011513693.1:c.2122+34_2122+35insA XP_011511995.1:n.2122+34_2122+35insA
XM_011513694.1:c.2059+34_2059+35insA XP_011511996.1:n.2059+34_2059+35insA
XM_011513695.1:c.1933+34_1933+35insA XP_011511997.1:n.1933+34_1933+35insA
XM_011513696.1:c.1252+34_1252+35insA XP_011511998.1:n.1252+34_1252+35insA
XM_006714014.3:c.2095+34_2095+35insA XP_006714077.1:n.2095+34_2095+35insA
XM_011513693.2:c.2122+34_2122+35insA XP_011511995.1:n.2122+34_2122+35insA
XM_011513694.2:c.2059+34_2059+35insA XP_011511996.1:n.2059+34_2059+35insA
XM_011513695.2:c.1933+34_1933+35insA XP_011511997.1:n.1933+34_1933+35insA
XM_011513696.2:c.1252+34_1252+35insA XP_011511998.1:n.1252+34_1252+35insA
XM_017008191.1:c.2122+34_2122+35insA XP_016863680.1:n.2122+34_2122+35insA
XM_017008192.1:c.2122+34_2122+35insA XP_016863681.1:n.2122+34_2122+35insA
XM_017008193.1:c.1643+13488_1643+13489insA XP_016863682.1:n.1643+13488_1643+13489insA
XR_001741217.1:n.2280+34_2280+35insA
NM_001170700.3:c.2095+34_2095+35insA MANE Select NP_001164171.2:n.2095+34_2095+35insA
NR_160267.1:n.2257+34_2257+35insA
NM_001136536.5:c.1225+34_1225+35insA NP_001130008.2:n.1225+34_1225+35insA
NM_001378435.1:c.1162+34_1162+35insA NP_001365364.1:n.1162+34_1162+35insA
NR_165630.1:n.2171+34_2171+35insA