Canonical Allele Identifier: CA2830536602

Gene: DTHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.36308498_36308499del , CM000666.2:g.36308498_36308499del	GRCh38
NC_000004.11:g.36310120_36310121del , CM000666.1:g.36310120_36310121del	GRCh37
NC_000004.10:g.35986515_35986516del	NCBI36
NG_032962.1:g.31884_31885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639862.2:c.2095+5_2095+6del MANE Select	ENSP00000492542.1:n.2095+5_2095+6del
ENST00000357504.7:c.1225+5_1225+6del	ENSP00000350103.3:n.1225+5_1225+6del
ENST00000456874.3:c.1720+5_1720+6del	ENSP00000401597.2:n.1720+5_1720+6del
ENST00000507598.5:c.1840+5_1840+6del	ENSP00000424426.1:n.1840+5_1840+6del
NM_001136536.4:c.1225+5_1225+6del	NP_001130008.2:n.1225+5_1225+6del
NM_001170700.2:c.1720+5_1720+6del	NP_001164171.1:n.1720+5_1720+6del
XM_006714014.2:c.2095+5_2095+6del	XP_006714077.1:n.2095+5_2095+6del
XM_011513693.1:c.2122+5_2122+6del	XP_011511995.1:n.2122+5_2122+6del
XM_011513694.1:c.2059+5_2059+6del	XP_011511996.1:n.2059+5_2059+6del
XM_011513695.1:c.1933+5_1933+6del	XP_011511997.1:n.1933+5_1933+6del
XM_011513696.1:c.1252+5_1252+6del	XP_011511998.1:n.1252+5_1252+6del
XM_006714014.3:c.2095+5_2095+6del	XP_006714077.1:n.2095+5_2095+6del
XM_011513693.2:c.2122+5_2122+6del	XP_011511995.1:n.2122+5_2122+6del
XM_011513694.2:c.2059+5_2059+6del	XP_011511996.1:n.2059+5_2059+6del
XM_011513695.2:c.1933+5_1933+6del	XP_011511997.1:n.1933+5_1933+6del
XM_011513696.2:c.1252+5_1252+6del	XP_011511998.1:n.1252+5_1252+6del
XM_017008191.1:c.2122+5_2122+6del	XP_016863680.1:n.2122+5_2122+6del
XM_017008192.1:c.2122+5_2122+6del	XP_016863681.1:n.2122+5_2122+6del
XM_017008193.1:c.1643+13459_1643+13460del	XP_016863682.1:n.1643+13459_1643+13460del
XR_001741217.1:n.2280+5_2280+6del
NM_001170700.3:c.2095+5_2095+6del MANE Select	NP_001164171.2:n.2095+5_2095+6del
NR_160267.1:n.2257+5_2257+6del
NM_001136536.5:c.1225+5_1225+6del	NP_001130008.2:n.1225+5_1225+6del
NM_001378435.1:c.1162+5_1162+6del	NP_001365364.1:n.1162+5_1162+6del
NR_165630.1:n.2171+5_2171+6del