Canonical Allele Identifier: CA2830536603
Gene: DTHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.36308501_36308502insCTTA , CM000666.2:g.36308501_36308502insCTTA GRCh38
NC_000004.11:g.36310123_36310124insCTTA , CM000666.1:g.36310123_36310124insCTTA GRCh37
NC_000004.10:g.35986518_35986519insCTTA NCBI36
NG_032962.1:g.31887_31888insCTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000639862.2:c.2095+8_2095+9insCTTA MANE Select ENSP00000492542.1:n.2095+8_2095+9insCTTA
ENST00000357504.7:c.1225+8_1225+9insCTTA ENSP00000350103.3:n.1225+8_1225+9insCTTA
ENST00000456874.3:c.1720+8_1720+9insCTTA ENSP00000401597.2:n.1720+8_1720+9insCTTA
ENST00000507598.5:c.1840+8_1840+9insCTTA ENSP00000424426.1:n.1840+8_1840+9insCTTA
NM_001136536.4:c.1225+8_1225+9insCTTA NP_001130008.2:n.1225+8_1225+9insCTTA
NM_001170700.2:c.1720+8_1720+9insCTTA NP_001164171.1:n.1720+8_1720+9insCTTA
XM_006714014.2:c.2095+8_2095+9insCTTA XP_006714077.1:n.2095+8_2095+9insCTTA
XM_011513693.1:c.2122+8_2122+9insCTTA XP_011511995.1:n.2122+8_2122+9insCTTA
XM_011513694.1:c.2059+8_2059+9insCTTA XP_011511996.1:n.2059+8_2059+9insCTTA
XM_011513695.1:c.1933+8_1933+9insCTTA XP_011511997.1:n.1933+8_1933+9insCTTA
XM_011513696.1:c.1252+8_1252+9insCTTA XP_011511998.1:n.1252+8_1252+9insCTTA
XM_006714014.3:c.2095+8_2095+9insCTTA XP_006714077.1:n.2095+8_2095+9insCTTA
XM_011513693.2:c.2122+8_2122+9insCTTA XP_011511995.1:n.2122+8_2122+9insCTTA
XM_011513694.2:c.2059+8_2059+9insCTTA XP_011511996.1:n.2059+8_2059+9insCTTA
XM_011513695.2:c.1933+8_1933+9insCTTA XP_011511997.1:n.1933+8_1933+9insCTTA
XM_011513696.2:c.1252+8_1252+9insCTTA XP_011511998.1:n.1252+8_1252+9insCTTA
XM_017008191.1:c.2122+8_2122+9insCTTA XP_016863680.1:n.2122+8_2122+9insCTTA
XM_017008192.1:c.2122+8_2122+9insCTTA XP_016863681.1:n.2122+8_2122+9insCTTA
XM_017008193.1:c.1643+13462_1643+13463insCTTA XP_016863682.1:n.1643+13462_1643+13463insCTTA
XR_001741217.1:n.2280+8_2280+9insCTTA
NM_001170700.3:c.2095+8_2095+9insCTTA MANE Select NP_001164171.2:n.2095+8_2095+9insCTTA
NR_160267.1:n.2257+8_2257+9insCTTA
NM_001136536.5:c.1225+8_1225+9insCTTA NP_001130008.2:n.1225+8_1225+9insCTTA
NM_001378435.1:c.1162+8_1162+9insCTTA NP_001365364.1:n.1162+8_1162+9insCTTA
NR_165630.1:n.2171+8_2171+9insCTTA