Canonical Allele Identifier: CA2688302499

Gene: TRPS1

Linked Data

• gnomAD v4: 8-115414028-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115414030_115414031del , CM000670.2:g.115414030_115414031del	GRCh38
NC_000008.10:g.116426258_116426259del , CM000670.1:g.116426258_116426259del	GRCh37
NC_000008.9:g.116495434_116495435del	NCBI36
NG_012383.3:g.259972_259973del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395715.8:c.3878_3879del MANE Select	ENSP00000379065.3:p.Lys1293ArgfsTer5
ENST00000640765.1:c.3839_3840del	ENSP00000492037.1:p.Lys1280ArgfsTer5
ENST00000220888.9:c.3839_3840del	ENSP00000220888.5:p.Lys1280ArgfsTer5
ENST00000395715.7:c.3878_3879del	ENSP00000379065.3:p.Lys1293ArgfsTer5
ENST00000519076.5:c.3101_3102del	ENSP00000428910.1:p.Lys1034ArgfsTer5
ENST00000520276.5:c.3851_3852del	ENSP00000428680.1:p.Lys1284ArgfsTer5
NM_001282902.2:c.3851_3852del	NP_001269831.1:p.Lys1284ArgfsTer5
NM_001282903.2:c.3857_3858del	NP_001269832.1:p.Lys1286ArgfsTer5
NM_014112.4:c.3878_3879del	NP_054831.2:p.Lys1293ArgfsTer5
XM_005251049.2:c.3839_3840del	XP_005251106.1:p.Lys1280ArgfsTer5
XM_006716625.1:c.3878_3879del	XP_006716688.1:p.Lys1293ArgfsTer5
XM_011517264.1:c.3878_3879del	XP_011515566.1:p.Lys1293ArgfsTer5
XM_011517265.1:c.3878_3879del	XP_011515567.1:p.Lys1293ArgfsTer5
XM_011517266.1:c.3878_3879del	XP_011515568.1:p.Lys1293ArgfsTer5
XM_011517267.1:c.3857_3858del	XP_011515569.1:p.Lys1286ArgfsTer5
XM_011517268.1:c.3839_3840del	XP_011515570.1:p.Lys1280ArgfsTer5
NM_001330599.1:c.3839_3840del	NP_001317528.1:p.Lys1280ArgfsTer5
XM_011517264.2:c.3878_3879del	XP_011515566.1:p.Lys1293ArgfsTer5
XM_011517266.3:c.3878_3879del	XP_011515568.1:p.Lys1293ArgfsTer5
XM_011517268.2:c.3839_3840del	XP_011515570.1:p.Lys1280ArgfsTer5
NM_001282902.3:c.3851_3852del	NP_001269831.1:p.Lys1284ArgfsTer5
NM_001282903.3:c.3857_3858del	NP_001269832.1:p.Lys1286ArgfsTer5
NM_001330599.2:c.3839_3840del	NP_001317528.1:p.Lys1280ArgfsTer5
NM_014112.5:c.3878_3879del MANE Select	NP_054831.2:p.Lys1293ArgfsTer5