Canonical Allele Identifier: CA2688302494

Gene: TRPS1

Linked Data

• gnomAD v4: 8-115414017-AAGGTTTTACTCTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115414025_115414038del , CM000670.2:g.115414025_115414038del	GRCh38
NC_000008.10:g.116426253_116426266del , CM000670.1:g.116426253_116426266del	GRCh37
NC_000008.9:g.116495429_116495442del	NCBI36
NG_012383.3:g.259971_259984del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395715.8:c.3877_*5del MANE Select	ENSP00000379065.3:n.[c.3877_*5del;Lys1293...
ENST00000640765.1:c.3838_*5del	ENSP00000492037.1:n.[c.3838_*5del;Lys1280...
ENST00000220888.9:c.3838_*5del	ENSP00000220888.5:n.[c.3838_*5del;Lys1280...
ENST00000395715.7:c.3877_*5del	ENSP00000379065.3:n.[c.3877_*5del;Lys1293...
ENST00000519076.5:c.3100_*5del	ENSP00000428910.1:n.[c.3100_*5del;Lys1034...
ENST00000520276.5:c.3850_*5del	ENSP00000428680.1:n.[c.3850_*5del;Lys1284...
NM_001282902.2:c.3850_*5del	NP_001269831.1:n.[c.3850_*5del;Lys1284Ter...
NM_001282903.2:c.3856_*5del	NP_001269832.1:n.[c.3856_*5del;Lys1286Ter...
NM_014112.4:c.3877_*5del	NP_054831.2:n.[c.3877_*5del;Lys1293Ter]
XM_005251049.2:c.3838_*5del	XP_005251106.1:n.[c.3838_*5del;Lys1280Ter...
XM_006716625.1:c.3877_*5del	XP_006716688.1:n.[c.3877_*5del;Lys1293Ter...
XM_011517264.1:c.3877_*5del	XP_011515566.1:n.[c.3877_*5del;Lys1293Ter...
XM_011517265.1:c.3877_*5del	XP_011515567.1:n.[c.3877_*5del;Lys1293Ter...
XM_011517266.1:c.3877_*5del	XP_011515568.1:n.[c.3877_*5del;Lys1293Ter...
XM_011517267.1:c.3856_*5del	XP_011515569.1:n.[c.3856_*5del;Lys1286Ter...
XM_011517268.1:c.3838_*5del	XP_011515570.1:n.[c.3838_*5del;Lys1280Ter...
NM_001330599.1:c.3838_*5del	NP_001317528.1:n.[c.3838_*5del;Lys1280Ter...
XM_011517264.2:c.3877_*5del	XP_011515566.1:n.[c.3877_*5del;Lys1293Ter...
XM_011517266.3:c.3877_*5del	XP_011515568.1:n.[c.3877_*5del;Lys1293Ter...
XM_011517268.2:c.3838_*5del	XP_011515570.1:n.[c.3838_*5del;Lys1280Ter...
NM_001282902.3:c.3850_*5del	NP_001269831.1:n.[c.3850_*5del;Lys1284Ter...
NM_001282903.3:c.3856_*5del	NP_001269832.1:n.[c.3856_*5del;Lys1286Ter...
NM_001330599.2:c.3838_*5del	NP_001317528.1:n.[c.3838_*5del;Lys1280Ter...
NM_014112.5:c.3877_*5del MANE Select	NP_054831.2:n.[c.3877_*5del;Lys1293Ter]