Canonical Allele Identifier: CA2837995167

Gene: TRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115418333_115418336del , CM000670.2:g.115418333_115418336del	GRCh38
NC_000008.10:g.116430561_116430564del , CM000670.1:g.116430561_116430564del	GRCh37
NC_000008.9:g.116499737_116499740del	NCBI36
NG_012383.3:g.255668_255671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.2819_2822del MANE Select	ENSP00000379065.3:p.His940ArgfsTer6
ENST00000640765.1:c.2780_2783del	ENSP00000492037.1:p.His927ArgfsTer6
ENST00000220888.9:c.2780_2783del	ENSP00000220888.5:p.His927ArgfsTer6
ENST00000395715.7:c.2819_2822del	ENSP00000379065.3:p.His940ArgfsTer6
ENST00000518018.1:c.153_156del
ENST00000519076.5:c.2042_2045del	ENSP00000428910.1:p.His681ArgfsTer6
ENST00000520276.5:c.2792_2795del	ENSP00000428680.1:p.His931ArgfsTer6
NM_001282902.2:c.2792_2795del	NP_001269831.1:p.His931ArgfsTer6
NM_001282903.2:c.2798_2801del	NP_001269832.1:p.His933ArgfsTer6
NM_014112.4:c.2819_2822del	NP_054831.2:p.His940ArgfsTer6
XM_005251049.2:c.2780_2783del	XP_005251106.1:p.His927ArgfsTer6
XM_006716625.1:c.2819_2822del	XP_006716688.1:p.His940ArgfsTer6
XM_011517264.1:c.2819_2822del	XP_011515566.1:p.His940ArgfsTer6
XM_011517265.1:c.2819_2822del	XP_011515567.1:p.His940ArgfsTer6
XM_011517266.1:c.2819_2822del	XP_011515568.1:p.His940ArgfsTer6
XM_011517267.1:c.2798_2801del	XP_011515569.1:p.His933ArgfsTer6
XM_011517268.1:c.2780_2783del	XP_011515570.1:p.His927ArgfsTer6
NM_001330599.1:c.2780_2783del	NP_001317528.1:p.His927ArgfsTer6
XM_011517264.2:c.2819_2822del	XP_011515566.1:p.His940ArgfsTer6
XM_011517266.3:c.2819_2822del	XP_011515568.1:p.His940ArgfsTer6
XM_011517268.2:c.2780_2783del	XP_011515570.1:p.His927ArgfsTer6
NM_001282902.3:c.2792_2795del	NP_001269831.1:p.His931ArgfsTer6
NM_001282903.3:c.2798_2801del	NP_001269832.1:p.His933ArgfsTer6
NM_001330599.2:c.2780_2783del	NP_001317528.1:p.His927ArgfsTer6
NM_014112.5:c.2819_2822del MANE Select	NP_054831.2:p.His940ArgfsTer6