Canonical Allele Identifier: CA2761038767

Gene: DTHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.36308503_36308504insCC , CM000666.2:g.36308503_36308504insCC	GRCh38
NC_000004.11:g.36310125_36310126insCC , CM000666.1:g.36310125_36310126insCC	GRCh37
NC_000004.10:g.35986520_35986521insCC	NCBI36
NG_032962.1:g.31889_31890insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639862.2:c.2095+10_2095+11insCC MANE Select	ENSP00000492542.1:n.2095+10_2095+11insCC
ENST00000357504.7:c.1225+10_1225+11insCC	ENSP00000350103.3:n.1225+10_1225+11insCC
ENST00000456874.3:c.1720+10_1720+11insCC	ENSP00000401597.2:n.1720+10_1720+11insCC
ENST00000507598.5:c.1840+10_1840+11insCC	ENSP00000424426.1:n.1840+10_1840+11insCC
NM_001136536.4:c.1225+10_1225+11insCC	NP_001130008.2:n.1225+10_1225+11insCC
NM_001170700.2:c.1720+10_1720+11insCC	NP_001164171.1:n.1720+10_1720+11insCC
XM_006714014.2:c.2095+10_2095+11insCC	XP_006714077.1:n.2095+10_2095+11insCC
XM_011513693.1:c.2122+10_2122+11insCC	XP_011511995.1:n.2122+10_2122+11insCC
XM_011513694.1:c.2059+10_2059+11insCC	XP_011511996.1:n.2059+10_2059+11insCC
XM_011513695.1:c.1933+10_1933+11insCC	XP_011511997.1:n.1933+10_1933+11insCC
XM_011513696.1:c.1252+10_1252+11insCC	XP_011511998.1:n.1252+10_1252+11insCC
XM_006714014.3:c.2095+10_2095+11insCC	XP_006714077.1:n.2095+10_2095+11insCC
XM_011513693.2:c.2122+10_2122+11insCC	XP_011511995.1:n.2122+10_2122+11insCC
XM_011513694.2:c.2059+10_2059+11insCC	XP_011511996.1:n.2059+10_2059+11insCC
XM_011513695.2:c.1933+10_1933+11insCC	XP_011511997.1:n.1933+10_1933+11insCC
XM_011513696.2:c.1252+10_1252+11insCC	XP_011511998.1:n.1252+10_1252+11insCC
XM_017008191.1:c.2122+10_2122+11insCC	XP_016863680.1:n.2122+10_2122+11insCC
XM_017008192.1:c.2122+10_2122+11insCC	XP_016863681.1:n.2122+10_2122+11insCC
XM_017008193.1:c.1643+13464_1643+13465insCC	XP_016863682.1:n.1643+13464_1643+13465insCC
XR_001741217.1:n.2280+10_2280+11insCC
NM_001170700.3:c.2095+10_2095+11insCC MANE Select	NP_001164171.2:n.2095+10_2095+11insCC
NR_160267.1:n.2257+10_2257+11insCC
NM_001136536.5:c.1225+10_1225+11insCC	NP_001130008.2:n.1225+10_1225+11insCC
NM_001378435.1:c.1162+10_1162+11insCC	NP_001365364.1:n.1162+10_1162+11insCC
NR_165630.1:n.2171+10_2171+11insCC