Canonical Allele Identifier: CA2761038813

Gene: DTHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.36308526_36308527insAC , CM000666.2:g.36308526_36308527insAC	GRCh38
NC_000004.11:g.36310148_36310149insAC , CM000666.1:g.36310148_36310149insAC	GRCh37
NC_000004.10:g.35986543_35986544insAC	NCBI36
NG_032962.1:g.31912_31913insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639862.2:c.2095+33_2095+34insAC MANE Select	ENSP00000492542.1:n.2095+33_2095+34insAC
ENST00000357504.7:c.1225+33_1225+34insAC	ENSP00000350103.3:n.1225+33_1225+34insAC
ENST00000456874.3:c.1720+33_1720+34insAC	ENSP00000401597.2:n.1720+33_1720+34insAC
ENST00000507598.5:c.1840+33_1840+34insAC	ENSP00000424426.1:n.1840+33_1840+34insAC
NM_001136536.4:c.1225+33_1225+34insAC	NP_001130008.2:n.1225+33_1225+34insAC
NM_001170700.2:c.1720+33_1720+34insAC	NP_001164171.1:n.1720+33_1720+34insAC
XM_006714014.2:c.2095+33_2095+34insAC	XP_006714077.1:n.2095+33_2095+34insAC
XM_011513693.1:c.2122+33_2122+34insAC	XP_011511995.1:n.2122+33_2122+34insAC
XM_011513694.1:c.2059+33_2059+34insAC	XP_011511996.1:n.2059+33_2059+34insAC
XM_011513695.1:c.1933+33_1933+34insAC	XP_011511997.1:n.1933+33_1933+34insAC
XM_011513696.1:c.1252+33_1252+34insAC	XP_011511998.1:n.1252+33_1252+34insAC
XM_006714014.3:c.2095+33_2095+34insAC	XP_006714077.1:n.2095+33_2095+34insAC
XM_011513693.2:c.2122+33_2122+34insAC	XP_011511995.1:n.2122+33_2122+34insAC
XM_011513694.2:c.2059+33_2059+34insAC	XP_011511996.1:n.2059+33_2059+34insAC
XM_011513695.2:c.1933+33_1933+34insAC	XP_011511997.1:n.1933+33_1933+34insAC
XM_011513696.2:c.1252+33_1252+34insAC	XP_011511998.1:n.1252+33_1252+34insAC
XM_017008191.1:c.2122+33_2122+34insAC	XP_016863680.1:n.2122+33_2122+34insAC
XM_017008192.1:c.2122+33_2122+34insAC	XP_016863681.1:n.2122+33_2122+34insAC
XM_017008193.1:c.1643+13487_1643+13488insAC	XP_016863682.1:n.1643+13487_1643+13488insAC
XR_001741217.1:n.2280+33_2280+34insAC
NM_001170700.3:c.2095+33_2095+34insAC MANE Select	NP_001164171.2:n.2095+33_2095+34insAC
NR_160267.1:n.2257+33_2257+34insAC
NM_001136536.5:c.1225+33_1225+34insAC	NP_001130008.2:n.1225+33_1225+34insAC
NM_001378435.1:c.1162+33_1162+34insAC	NP_001365364.1:n.1162+33_1162+34insAC
NR_165630.1:n.2171+33_2171+34insAC