Canonical Allele Identifier: CA2579233407
Gene: TRPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.115418281_115418286del , CM000670.2:g.115418281_115418286del GRCh38
NC_000008.10:g.116430509_116430514del , CM000670.1:g.116430509_116430514del GRCh37
NC_000008.9:g.116499685_116499690del NCBI36
NG_012383.3:g.255717_255722del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395715.8:c.2823+45_2823+50del MANE Select ENSP00000379065.3:n.2823+45_2823+50del
ENST00000640765.1:c.2784+45_2784+50del ENSP00000492037.1:n.2784+45_2784+50del
ENST00000220888.9:c.2784+45_2784+50del ENSP00000220888.5:n.2784+45_2784+50del
ENST00000395715.7:c.2823+45_2823+50del ENSP00000379065.3:n.2823+45_2823+50del
ENST00000518018.1:c.157+45_157+50del
ENST00000519076.5:c.2046+45_2046+50del ENSP00000428910.1:n.2046+45_2046+50del
ENST00000520276.5:c.2796+45_2796+50del ENSP00000428680.1:n.2796+45_2796+50del
NM_001282902.2:c.2796+45_2796+50del NP_001269831.1:n.2796+45_2796+50del
NM_001282903.2:c.2802+45_2802+50del NP_001269832.1:n.2802+45_2802+50del
NM_014112.4:c.2823+45_2823+50del NP_054831.2:n.2823+45_2823+50del
XM_005251049.2:c.2784+45_2784+50del XP_005251106.1:n.2784+45_2784+50del
XM_006716625.1:c.2823+45_2823+50del XP_006716688.1:n.2823+45_2823+50del
XM_011517264.1:c.2823+45_2823+50del XP_011515566.1:n.2823+45_2823+50del
XM_011517265.1:c.2823+45_2823+50del XP_011515567.1:n.2823+45_2823+50del
XM_011517266.1:c.2823+45_2823+50del XP_011515568.1:n.2823+45_2823+50del
XM_011517267.1:c.2802+45_2802+50del XP_011515569.1:n.2802+45_2802+50del
XM_011517268.1:c.2784+45_2784+50del XP_011515570.1:n.2784+45_2784+50del
NM_001330599.1:c.2784+45_2784+50del NP_001317528.1:n.2784+45_2784+50del
XM_011517264.2:c.2823+45_2823+50del XP_011515566.1:n.2823+45_2823+50del
XM_011517266.3:c.2823+45_2823+50del XP_011515568.1:n.2823+45_2823+50del
XM_011517268.2:c.2784+45_2784+50del XP_011515570.1:n.2784+45_2784+50del
NM_001282902.3:c.2796+45_2796+50del NP_001269831.1:n.2796+45_2796+50del
NM_001282903.3:c.2802+45_2802+50del NP_001269832.1:n.2802+45_2802+50del
NM_001330599.2:c.2784+45_2784+50del NP_001317528.1:n.2784+45_2784+50del
NM_014112.5:c.2823+45_2823+50del MANE Select NP_054831.2:n.2823+45_2823+50del