Canonical Allele Identifier: CA1450719303
Gene: DTHD1 HGNC NCBI

Linked Data

dbSNP Id: rs1757198556

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.36308591_36308618del , CM000666.2:g.36308591_36308618del GRCh38
NC_000004.11:g.36310213_36310240del , CM000666.1:g.36310213_36310240del GRCh37
NC_000004.10:g.35986608_35986635del NCBI36
NG_032962.1:g.31977_32004del

Transcript Alleles

HGVS Amino-acid Change
ENST00000639862.2:c.2095+98_2095+125del MANE Select ENSP00000492542.1:n.2095+98_2095+125del
ENST00000357504.7:c.1225+98_1225+125del ENSP00000350103.3:n.1225+98_1225+125del
ENST00000456874.3:c.1720+98_1720+125del ENSP00000401597.2:n.1720+98_1720+125del
ENST00000507598.5:c.1840+98_1840+125del ENSP00000424426.1:n.1840+98_1840+125del
NM_001136536.4:c.1225+98_1225+125del NP_001130008.2:n.1225+98_1225+125del
NM_001170700.2:c.1720+98_1720+125del NP_001164171.1:n.1720+98_1720+125del
XM_006714014.2:c.2095+98_2095+125del XP_006714077.1:n.2095+98_2095+125del
XM_011513693.1:c.2122+98_2122+125del XP_011511995.1:n.2122+98_2122+125del
XM_011513694.1:c.2059+98_2059+125del XP_011511996.1:n.2059+98_2059+125del
XM_011513695.1:c.1933+98_1933+125del XP_011511997.1:n.1933+98_1933+125del
XM_011513696.1:c.1252+98_1252+125del XP_011511998.1:n.1252+98_1252+125del
XM_006714014.3:c.2095+98_2095+125del XP_006714077.1:n.2095+98_2095+125del
XM_011513693.2:c.2122+98_2122+125del XP_011511995.1:n.2122+98_2122+125del
XM_011513694.2:c.2059+98_2059+125del XP_011511996.1:n.2059+98_2059+125del
XM_011513695.2:c.1933+98_1933+125del XP_011511997.1:n.1933+98_1933+125del
XM_011513696.2:c.1252+98_1252+125del XP_011511998.1:n.1252+98_1252+125del
XM_017008191.1:c.2122+98_2122+125del XP_016863680.1:n.2122+98_2122+125del
XM_017008192.1:c.2122+98_2122+125del XP_016863681.1:n.2122+98_2122+125del
XM_017008193.1:c.1643+13552_1643+13579del XP_016863682.1:n.1643+13552_1643+13579del
XR_001741217.1:n.2280+98_2280+125del
NM_001170700.3:c.2095+98_2095+125del MANE Select NP_001164171.2:n.2095+98_2095+125del
NR_160267.1:n.2257+98_2257+125del
NM_001136536.5:c.1225+98_1225+125del NP_001130008.2:n.1225+98_1225+125del
NM_001378435.1:c.1162+98_1162+125del NP_001365364.1:n.1162+98_1162+125del
NR_165630.1:n.2171+98_2171+125del