Canonical Allele Identifier: CA2761038854

Gene: DTHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.36308562_36308563insTATAGCCAACAAACAACC , CM000666.2:g.36308562_36308563insTATAGCCAACAAACAACC	GRCh38
NC_000004.11:g.36310184_36310185insTATAGCCAACAAACAACC , CM000666.1:g.36310184_36310185insTATAGCCAACAAACAACC	GRCh37
NC_000004.10:g.35986579_35986580insTATAGCCAACAAACAACC	NCBI36
NG_032962.1:g.31948_31949insTATAGCCAACAAACAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639862.2:c.2095+69_2095+70insTATAGCCAACAAACAACC MANE Select	ENSP00000492542.1:n.2095+69_2095+70insTATAGCCAACAAACAACC
ENST00000357504.7:c.1225+69_1225+70insTATAGCCAACAAACAACC	ENSP00000350103.3:n.1225+69_1225+70insTATAGCCAACAAACAACC
ENST00000456874.3:c.1720+69_1720+70insTATAGCCAACAAACAACC	ENSP00000401597.2:n.1720+69_1720+70insTATAGCCAACAAACAACC
ENST00000507598.5:c.1840+69_1840+70insTATAGCCAACAAACAACC	ENSP00000424426.1:n.1840+69_1840+70insTATAGCCAACAAACAACC
NM_001136536.4:c.1225+69_1225+70insTATAGCCAACAAACAACC	NP_001130008.2:n.1225+69_1225+70insTATAGCCAACAAACAACC
NM_001170700.2:c.1720+69_1720+70insTATAGCCAACAAACAACC	NP_001164171.1:n.1720+69_1720+70insTATAGCCAACAAACAACC
XM_006714014.2:c.2095+69_2095+70insTATAGCCAACAAACAACC	XP_006714077.1:n.2095+69_2095+70insTATAGCCAACAAACAACC
XM_011513693.1:c.2122+69_2122+70insTATAGCCAACAAACAACC	XP_011511995.1:n.2122+69_2122+70insTATAGCCAACAAACAACC
XM_011513694.1:c.2059+69_2059+70insTATAGCCAACAAACAACC	XP_011511996.1:n.2059+69_2059+70insTATAGCCAACAAACAACC
XM_011513695.1:c.1933+69_1933+70insTATAGCCAACAAACAACC	XP_011511997.1:n.1933+69_1933+70insTATAGCCAACAAACAACC
XM_011513696.1:c.1252+69_1252+70insTATAGCCAACAAACAACC	XP_011511998.1:n.1252+69_1252+70insTATAGCCAACAAACAACC
XM_006714014.3:c.2095+69_2095+70insTATAGCCAACAAACAACC	XP_006714077.1:n.2095+69_2095+70insTATAGCCAACAAACAACC
XM_011513693.2:c.2122+69_2122+70insTATAGCCAACAAACAACC	XP_011511995.1:n.2122+69_2122+70insTATAGCCAACAAACAACC
XM_011513694.2:c.2059+69_2059+70insTATAGCCAACAAACAACC	XP_011511996.1:n.2059+69_2059+70insTATAGCCAACAAACAACC
XM_011513695.2:c.1933+69_1933+70insTATAGCCAACAAACAACC	XP_011511997.1:n.1933+69_1933+70insTATAGCCAACAAACAACC
XM_011513696.2:c.1252+69_1252+70insTATAGCCAACAAACAACC	XP_011511998.1:n.1252+69_1252+70insTATAGCCAACAAACAACC
XM_017008191.1:c.2122+69_2122+70insTATAGCCAACAAACAACC	XP_016863680.1:n.2122+69_2122+70insTATAGCCAACAAACAACC
XM_017008192.1:c.2122+69_2122+70insTATAGCCAACAAACAACC	XP_016863681.1:n.2122+69_2122+70insTATAGCCAACAAACAACC
XM_017008193.1:c.1643+13523_1643+13524insTATAGCCAACAAACAACC	XP_016863682.1:n.1643+13523_1643+13524insTATAGCCAACAAACAACC
XR_001741217.1:n.2280+69_2280+70insTATAGCCAACAAACAACC
NM_001170700.3:c.2095+69_2095+70insTATAGCCAACAAACAACC MANE Select	NP_001164171.2:n.2095+69_2095+70insTATAGCCAACAAACAACC
NR_160267.1:n.2257+69_2257+70insTATAGCCAACAAACAACC
NM_001136536.5:c.1225+69_1225+70insTATAGCCAACAAACAACC	NP_001130008.2:n.1225+69_1225+70insTATAGCCAACAAACAACC
NM_001378435.1:c.1162+69_1162+70insTATAGCCAACAAACAACC	NP_001365364.1:n.1162+69_1162+70insTATAGCCAACAAACAACC
NR_165630.1:n.2171+69_2171+70insTATAGCCAACAAACAACC