Canonical Allele Identifier: CA918347284

Gene: TRPS1

Linked Data

• dbSNP Id: rs1586248965
• gnomAD v3: 8-115414023-T-TTA
• gnomAD v4: 8-115414023-T-TTA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115414024_115414025dup , CM000670.2:g.115414024_115414025dup	GRCh38
NC_000008.10:g.116426252_116426253dup , CM000670.1:g.116426252_116426253dup	GRCh37
NC_000008.9:g.116495428_116495429dup	NCBI36
NG_012383.3:g.259977_259978dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000395715.8:c.3883_3884dup MANE Select	ENSP00000379065.3:p.Ter1295TyrextTer11
ENST00000640765.1:c.3844_3845dup	ENSP00000492037.1:p.Ter1282TyrextTer11
ENST00000220888.9:c.3844_3845dup	ENSP00000220888.5:p.Ter1282TyrextTer11
ENST00000395715.7:c.3883_3884dup	ENSP00000379065.3:p.Ter1295TyrextTer11
ENST00000519076.5:c.3106_3107dup	ENSP00000428910.1:p.Ter1036TyrextTer11
ENST00000520276.5:c.3856_3857dup	ENSP00000428680.1:p.Ter1286TyrextTer11
NM_001282902.2:c.3856_3857dup	NP_001269831.1:p.Ter1286TyrextTer11
NM_001282903.2:c.3862_3863dup	NP_001269832.1:p.Ter1288TyrextTer11
NM_014112.4:c.3883_3884dup	NP_054831.2:p.Ter1295TyrextTer11
XM_005251049.2:c.3844_3845dup	XP_005251106.1:p.Ter1282TyrextTer11
XM_006716625.1:c.3883_3884dup	XP_006716688.1:p.Ter1295TyrextTer11
XM_011517264.1:c.3883_3884dup	XP_011515566.1:p.Ter1295TyrextTer11
XM_011517265.1:c.3883_3884dup	XP_011515567.1:p.Ter1295TyrextTer11
XM_011517266.1:c.3883_3884dup	XP_011515568.1:p.Ter1295TyrextTer11
XM_011517267.1:c.3862_3863dup	XP_011515569.1:p.Ter1288TyrextTer11
XM_011517268.1:c.3844_3845dup	XP_011515570.1:p.Ter1282TyrextTer11
NM_001330599.1:c.3844_3845dup	NP_001317528.1:p.Ter1282TyrextTer11
XM_011517264.2:c.3883_3884dup	XP_011515566.1:p.Ter1295TyrextTer11
XM_011517266.3:c.3883_3884dup	XP_011515568.1:p.Ter1295TyrextTer11
XM_011517268.2:c.3844_3845dup	XP_011515570.1:p.Ter1282TyrextTer11
NM_001282902.3:c.3856_3857dup	NP_001269831.1:p.Ter1286TyrextTer11
NM_001282903.3:c.3862_3863dup	NP_001269832.1:p.Ter1288TyrextTer11
NM_001330599.2:c.3844_3845dup	NP_001317528.1:p.Ter1282TyrextTer11
NM_014112.5:c.3883_3884dup MANE Select	NP_054831.2:p.Ter1295TyrextTer11