Canonical Allele Identifier: CA968804347
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299708_38299716del , CM000677.2:g.38299708_38299716del GRCh38
NC_000015.9:g.38591909_38591917del , CM000677.1:g.38591909_38591917del GRCh37
NC_000015.8:g.36379201_36379209del NCBI36
NG_008980.1:g.51858_51866del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.207+161_207+169del MANE Select ENSP00000299084.4:n.207+161_207+169del
ENST00000299084.8:c.207+161_207+169del ENSP00000299084.4:n.207+161_207+169del
ENST00000561205.1:n.545+161_545+169del
ENST00000561317.1:c.144+161_144+169del ENSP00000453680.1:n.144+161_144+169del
NM_152594.2:c.207+161_207+169del NP_689807.1:n.207+161_207+169del
XM_005254202.2:c.243+161_243+169del XP_005254259.1:n.243+161_243+169del
XM_005254203.3:c.-15-22533_-15-22525del XP_005254260.1:n.-15-22533_-15-22525del
XM_011521288.1:c.144+161_144+169del XP_011519590.1:n.144+161_144+169del
XM_011521289.1:c.144+161_144+169del XP_011519591.1:n.144+161_144+169del
XM_011521290.1:c.144+161_144+169del XP_011519592.1:n.144+161_144+169del
XM_005254202.3:c.243+161_243+169del XP_005254259.1:n.243+161_243+169del
XM_011521289.3:c.144+161_144+169del XP_011519591.1:n.144+161_144+169del
NM_152594.3:c.207+161_207+169del MANE Select NP_689807.1:n.207+161_207+169del