Canonical Allele Identifier: CA2688302500

Gene: TRPS1

Linked Data

• gnomAD v4: 8-115414048-TCCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115414049_115414052del , CM000670.2:g.115414049_115414052del	GRCh38
NC_000008.10:g.116426277_116426280del , CM000670.1:g.116426277_116426280del	GRCh37
NC_000008.9:g.116495453_116495456del	NCBI36
NG_012383.3:g.259950_259953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.3856_3859del MANE Select	ENSP00000379065.3:p.Val1286LysfsTer18
ENST00000640765.1:c.3817_3820del	ENSP00000492037.1:p.Val1273LysfsTer18
ENST00000220888.9:c.3817_3820del	ENSP00000220888.5:p.Val1273LysfsTer18
ENST00000395715.7:c.3856_3859del	ENSP00000379065.3:p.Val1286LysfsTer18
ENST00000519076.5:c.3079_3082del	ENSP00000428910.1:p.Val1027LysfsTer18
ENST00000520276.5:c.3829_3832del	ENSP00000428680.1:p.Val1277LysfsTer18
NM_001282902.2:c.3829_3832del	NP_001269831.1:p.Val1277LysfsTer18
NM_001282903.2:c.3835_3838del	NP_001269832.1:p.Val1279LysfsTer18
NM_014112.4:c.3856_3859del	NP_054831.2:p.Val1286LysfsTer18
XM_005251049.2:c.3817_3820del	XP_005251106.1:p.Val1273LysfsTer18
XM_006716625.1:c.3856_3859del	XP_006716688.1:p.Val1286LysfsTer18
XM_011517264.1:c.3856_3859del	XP_011515566.1:p.Val1286LysfsTer18
XM_011517265.1:c.3856_3859del	XP_011515567.1:p.Val1286LysfsTer18
XM_011517266.1:c.3856_3859del	XP_011515568.1:p.Val1286LysfsTer18
XM_011517267.1:c.3835_3838del	XP_011515569.1:p.Val1279LysfsTer18
XM_011517268.1:c.3817_3820del	XP_011515570.1:p.Val1273LysfsTer18
NM_001330599.1:c.3817_3820del	NP_001317528.1:p.Val1273LysfsTer18
XM_011517264.2:c.3856_3859del	XP_011515566.1:p.Val1286LysfsTer18
XM_011517266.3:c.3856_3859del	XP_011515568.1:p.Val1286LysfsTer18
XM_011517268.2:c.3817_3820del	XP_011515570.1:p.Val1273LysfsTer18
NM_001282902.3:c.3829_3832del	NP_001269831.1:p.Val1277LysfsTer18
NM_001282903.3:c.3835_3838del	NP_001269832.1:p.Val1279LysfsTer18
NM_001330599.2:c.3817_3820del	NP_001317528.1:p.Val1273LysfsTer18
NM_014112.5:c.3856_3859del MANE Select	NP_054831.2:p.Val1286LysfsTer18