Canonical Allele Identifier: CA2781846494

Gene: TRPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.115414466dup , CM000670.2:g.115414466dup	GRCh38
NC_000008.10:g.116426694dup , CM000670.1:g.116426694dup	GRCh37
NC_000008.9:g.116495870dup	NCBI36
NG_012383.3:g.259537dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395715.8:c.3443dup MANE Select	ENSP00000379065.3:p.Asn1149LysfsTer26
ENST00000640765.1:c.3404dup	ENSP00000492037.1:p.Asn1136LysfsTer26
ENST00000220888.9:c.3404dup	ENSP00000220888.5:p.Asn1136LysfsTer26
ENST00000395715.7:c.3443dup	ENSP00000379065.3:p.Asn1149LysfsTer26
ENST00000518018.1:c.777dup
ENST00000519076.5:c.2666dup	ENSP00000428910.1:p.Asn890LysfsTer26
ENST00000520276.5:c.3416dup	ENSP00000428680.1:p.Asn1140LysfsTer26
NM_001282902.2:c.3416dup	NP_001269831.1:p.Asn1140LysfsTer26
NM_001282903.2:c.3422dup	NP_001269832.1:p.Asn1142LysfsTer26
NM_014112.4:c.3443dup	NP_054831.2:p.Asn1149LysfsTer26
XM_005251049.2:c.3404dup	XP_005251106.1:p.Asn1136LysfsTer26
XM_006716625.1:c.3443dup	XP_006716688.1:p.Asn1149LysfsTer26
XM_011517264.1:c.3443dup	XP_011515566.1:p.Asn1149LysfsTer26
XM_011517265.1:c.3443dup	XP_011515567.1:p.Asn1149LysfsTer26
XM_011517266.1:c.3443dup	XP_011515568.1:p.Asn1149LysfsTer26
XM_011517267.1:c.3422dup	XP_011515569.1:p.Asn1142LysfsTer26
XM_011517268.1:c.3404dup	XP_011515570.1:p.Asn1136LysfsTer26
NM_001330599.1:c.3404dup	NP_001317528.1:p.Asn1136LysfsTer26
XM_011517264.2:c.3443dup	XP_011515566.1:p.Asn1149LysfsTer26
XM_011517266.3:c.3443dup	XP_011515568.1:p.Asn1149LysfsTer26
XM_011517268.2:c.3404dup	XP_011515570.1:p.Asn1136LysfsTer26
NM_001282902.3:c.3416dup	NP_001269831.1:p.Asn1140LysfsTer26
NM_001282903.3:c.3422dup	NP_001269832.1:p.Asn1142LysfsTer26
NM_001330599.2:c.3404dup	NP_001317528.1:p.Asn1136LysfsTer26
NM_014112.5:c.3443dup MANE Select	NP_054831.2:p.Asn1149LysfsTer26