Canonical Allele Identifier: CA2761038764
Gene: DTHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.36308502_36308503insC , CM000666.2:g.36308502_36308503insC GRCh38
NC_000004.11:g.36310124_36310125insC , CM000666.1:g.36310124_36310125insC GRCh37
NC_000004.10:g.35986519_35986520insC NCBI36
NG_032962.1:g.31888_31889insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000639862.2:c.2095+9_2095+10insC MANE Select ENSP00000492542.1:n.2095+9_2095+10insC
ENST00000357504.7:c.1225+9_1225+10insC ENSP00000350103.3:n.1225+9_1225+10insC
ENST00000456874.3:c.1720+9_1720+10insC ENSP00000401597.2:n.1720+9_1720+10insC
ENST00000507598.5:c.1840+9_1840+10insC ENSP00000424426.1:n.1840+9_1840+10insC
NM_001136536.4:c.1225+9_1225+10insC NP_001130008.2:n.1225+9_1225+10insC
NM_001170700.2:c.1720+9_1720+10insC NP_001164171.1:n.1720+9_1720+10insC
XM_006714014.2:c.2095+9_2095+10insC XP_006714077.1:n.2095+9_2095+10insC
XM_011513693.1:c.2122+9_2122+10insC XP_011511995.1:n.2122+9_2122+10insC
XM_011513694.1:c.2059+9_2059+10insC XP_011511996.1:n.2059+9_2059+10insC
XM_011513695.1:c.1933+9_1933+10insC XP_011511997.1:n.1933+9_1933+10insC
XM_011513696.1:c.1252+9_1252+10insC XP_011511998.1:n.1252+9_1252+10insC
XM_006714014.3:c.2095+9_2095+10insC XP_006714077.1:n.2095+9_2095+10insC
XM_011513693.2:c.2122+9_2122+10insC XP_011511995.1:n.2122+9_2122+10insC
XM_011513694.2:c.2059+9_2059+10insC XP_011511996.1:n.2059+9_2059+10insC
XM_011513695.2:c.1933+9_1933+10insC XP_011511997.1:n.1933+9_1933+10insC
XM_011513696.2:c.1252+9_1252+10insC XP_011511998.1:n.1252+9_1252+10insC
XM_017008191.1:c.2122+9_2122+10insC XP_016863680.1:n.2122+9_2122+10insC
XM_017008192.1:c.2122+9_2122+10insC XP_016863681.1:n.2122+9_2122+10insC
XM_017008193.1:c.1643+13463_1643+13464insC XP_016863682.1:n.1643+13463_1643+13464insC
XR_001741217.1:n.2280+9_2280+10insC
NM_001170700.3:c.2095+9_2095+10insC MANE Select NP_001164171.2:n.2095+9_2095+10insC
NR_160267.1:n.2257+9_2257+10insC
NM_001136536.5:c.1225+9_1225+10insC NP_001130008.2:n.1225+9_1225+10insC
NM_001378435.1:c.1162+9_1162+10insC NP_001365364.1:n.1162+9_1162+10insC
NR_165630.1:n.2171+9_2171+10insC