Canonical Allele Identifier: CA4851594

Gene: TRPS1

Linked Data

• dbSNP Id: rs754887666
• ExAC: 8:116430692 G / GA
• gnomAD v2: 8-116430692-G-GA
• gnomAD v4: 8-115418464-G-GA
• MyVariant Identifiers: chr8:g.116430693_116430694insA (hg19) ; chr8:g.116430692_116430693insA (hg19) ; chr8:g.115418465_115418466insA (hg38) ; chr8:g.115418464_115418465insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115418471dup , CM000670.2:g.115418471dup	GRCh38
NC_000008.10:g.116430699dup , CM000670.1:g.116430699dup	GRCh37
NC_000008.9:g.116499875dup	NCBI36
NG_012383.3:g.255537dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.2701-13dup MANE Select	ENSP00000379065.3:n.2701-13dup
ENST00000640765.1:c.2662-13dup	ENSP00000492037.1:n.2662-13dup
ENST00000220888.9:c.2662-13dup	ENSP00000220888.5:n.2662-13dup
ENST00000395715.7:c.2701-13dup	ENSP00000379065.3:n.2701-13dup
ENST00000518018.1:c.35-13dup
ENST00000519076.5:c.1924-13dup	ENSP00000428910.1:n.1924-13dup
ENST00000520276.5:c.2674-13dup	ENSP00000428680.1:n.2674-13dup
NM_001282902.2:c.2674-13dup	NP_001269831.1:n.2674-13dup
NM_001282903.2:c.2680-13dup	NP_001269832.1:n.2680-13dup
NM_014112.4:c.2701-13dup	NP_054831.2:n.2701-13dup
XM_005251049.2:c.2662-13dup	XP_005251106.1:n.2662-13dup
XM_006716625.1:c.2701-13dup	XP_006716688.1:n.2701-13dup
XM_011517264.1:c.2701-13dup	XP_011515566.1:n.2701-13dup
XM_011517265.1:c.2701-13dup	XP_011515567.1:n.2701-13dup
XM_011517266.1:c.2701-13dup	XP_011515568.1:n.2701-13dup
XM_011517267.1:c.2680-13dup	XP_011515569.1:n.2680-13dup
XM_011517268.1:c.2662-13dup	XP_011515570.1:n.2662-13dup
NM_001330599.1:c.2662-13dup	NP_001317528.1:n.2662-13dup
XM_011517264.2:c.2701-13dup	XP_011515566.1:n.2701-13dup
XM_011517266.3:c.2701-13dup	XP_011515568.1:n.2701-13dup
XM_011517268.2:c.2662-13dup	XP_011515570.1:n.2662-13dup
NM_001282902.3:c.2674-13dup	NP_001269831.1:n.2674-13dup
NM_001282903.3:c.2680-13dup	NP_001269832.1:n.2680-13dup
NM_001330599.2:c.2662-13dup	NP_001317528.1:n.2662-13dup
NM_014112.5:c.2701-13dup MANE Select	NP_054831.2:n.2701-13dup