Canonical Allele Identifier: CA2670303072
Gene: DTHD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.36308582_36308585del , CM000666.2:g.36308582_36308585del GRCh38
NC_000004.11:g.36310204_36310207del , CM000666.1:g.36310204_36310207del GRCh37
NC_000004.10:g.35986599_35986602del NCBI36
NG_032962.1:g.31968_31971del

Transcript Alleles

HGVS Amino-acid Change
ENST00000639862.2:c.2095+89_2095+92del MANE Select ENSP00000492542.1:n.2095+89_2095+92del
ENST00000357504.7:c.1225+89_1225+92del ENSP00000350103.3:n.1225+89_1225+92del
ENST00000456874.3:c.1720+89_1720+92del ENSP00000401597.2:n.1720+89_1720+92del
ENST00000507598.5:c.1840+89_1840+92del ENSP00000424426.1:n.1840+89_1840+92del
NM_001136536.4:c.1225+89_1225+92del NP_001130008.2:n.1225+89_1225+92del
NM_001170700.2:c.1720+89_1720+92del NP_001164171.1:n.1720+89_1720+92del
XM_006714014.2:c.2095+89_2095+92del XP_006714077.1:n.2095+89_2095+92del
XM_011513693.1:c.2122+89_2122+92del XP_011511995.1:n.2122+89_2122+92del
XM_011513694.1:c.2059+89_2059+92del XP_011511996.1:n.2059+89_2059+92del
XM_011513695.1:c.1933+89_1933+92del XP_011511997.1:n.1933+89_1933+92del
XM_011513696.1:c.1252+89_1252+92del XP_011511998.1:n.1252+89_1252+92del
XM_006714014.3:c.2095+89_2095+92del XP_006714077.1:n.2095+89_2095+92del
XM_011513693.2:c.2122+89_2122+92del XP_011511995.1:n.2122+89_2122+92del
XM_011513694.2:c.2059+89_2059+92del XP_011511996.1:n.2059+89_2059+92del
XM_011513695.2:c.1933+89_1933+92del XP_011511997.1:n.1933+89_1933+92del
XM_011513696.2:c.1252+89_1252+92del XP_011511998.1:n.1252+89_1252+92del
XM_017008191.1:c.2122+89_2122+92del XP_016863680.1:n.2122+89_2122+92del
XM_017008192.1:c.2122+89_2122+92del XP_016863681.1:n.2122+89_2122+92del
XM_017008193.1:c.1643+13543_1643+13546del XP_016863682.1:n.1643+13543_1643+13546del
XR_001741217.1:n.2280+89_2280+92del
NM_001170700.3:c.2095+89_2095+92del MANE Select NP_001164171.2:n.2095+89_2095+92del
NR_160267.1:n.2257+89_2257+92del
NM_001136536.5:c.1225+89_1225+92del NP_001130008.2:n.1225+89_1225+92del
NM_001378435.1:c.1162+89_1162+92del NP_001365364.1:n.1162+89_1162+92del
NR_165630.1:n.2171+89_2171+92del