Canonical Allele Identifier: CA4851590

Gene: TRPS1

Linked Data

• ClinVar Variation Id: 361611
• ClinVar RCV Id: RCV000281575 ; RCV002058694
• dbSNP Id: rs368655299
• ExAC: 8:116430687 CAG / C
• gnomAD v2: 8-116430687-CAG-C
• gnomAD v3: 8-115418459-CAG-C
• gnomAD v4: 8-115418459-CAG-C
• MyVariant Identifiers: chr8:g.116430688_116430689del (hg19) ; chr8:g.115418460_115418461del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115418460_115418461del , CM000670.2:g.115418460_115418461del	GRCh38
NC_000008.10:g.116430688_116430689del , CM000670.1:g.116430688_116430689del	GRCh37
NC_000008.9:g.116499864_116499865del	NCBI36
NG_012383.3:g.255541_255542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.2701-9_2701-8del MANE Select	ENSP00000379065.3:n.2701-9_2701-8del
ENST00000640765.1:c.2662-9_2662-8del	ENSP00000492037.1:n.2662-9_2662-8del
ENST00000220888.9:c.2662-9_2662-8del	ENSP00000220888.5:n.2662-9_2662-8del
ENST00000395715.7:c.2701-9_2701-8del	ENSP00000379065.3:n.2701-9_2701-8del
ENST00000518018.1:c.35-9_35-8del
ENST00000519076.5:c.1924-9_1924-8del	ENSP00000428910.1:n.1924-9_1924-8del
ENST00000520276.5:c.2674-9_2674-8del	ENSP00000428680.1:n.2674-9_2674-8del
NM_001282902.2:c.2674-9_2674-8del	NP_001269831.1:n.2674-9_2674-8del
NM_001282903.2:c.2680-9_2680-8del	NP_001269832.1:n.2680-9_2680-8del
NM_014112.4:c.2701-9_2701-8del	NP_054831.2:n.2701-9_2701-8del
XM_005251049.2:c.2662-9_2662-8del	XP_005251106.1:n.2662-9_2662-8del
XM_006716625.1:c.2701-9_2701-8del	XP_006716688.1:n.2701-9_2701-8del
XM_011517264.1:c.2701-9_2701-8del	XP_011515566.1:n.2701-9_2701-8del
XM_011517265.1:c.2701-9_2701-8del	XP_011515567.1:n.2701-9_2701-8del
XM_011517266.1:c.2701-9_2701-8del	XP_011515568.1:n.2701-9_2701-8del
XM_011517267.1:c.2680-9_2680-8del	XP_011515569.1:n.2680-9_2680-8del
XM_011517268.1:c.2662-9_2662-8del	XP_011515570.1:n.2662-9_2662-8del
NM_001330599.1:c.2662-9_2662-8del	NP_001317528.1:n.2662-9_2662-8del
XM_011517264.2:c.2701-9_2701-8del	XP_011515566.1:n.2701-9_2701-8del
XM_011517266.3:c.2701-9_2701-8del	XP_011515568.1:n.2701-9_2701-8del
XM_011517268.2:c.2662-9_2662-8del	XP_011515570.1:n.2662-9_2662-8del
NM_001282902.3:c.2674-9_2674-8del	NP_001269831.1:n.2674-9_2674-8del
NM_001282903.3:c.2680-9_2680-8del	NP_001269832.1:n.2680-9_2680-8del
NM_001330599.2:c.2662-9_2662-8del	NP_001317528.1:n.2662-9_2662-8del
NM_014112.5:c.2701-9_2701-8del MANE Select	NP_054831.2:n.2701-9_2701-8del