Canonical Allele Identifier: CA2627715235
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299696_38299699del , CM000677.2:g.38299696_38299699del GRCh38
NC_000015.9:g.38591897_38591900del , CM000677.1:g.38591897_38591900del GRCh37
NC_000015.8:g.36379189_36379192del NCBI36
NG_008980.1:g.51846_51849del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.207+149_207+152del MANE Select ENSP00000299084.4:n.207+149_207+152del
ENST00000299084.8:c.207+149_207+152del ENSP00000299084.4:n.207+149_207+152del
ENST00000561205.1:n.545+149_545+152del
ENST00000561317.1:c.144+149_144+152del ENSP00000453680.1:n.144+149_144+152del
NM_152594.2:c.207+149_207+152del NP_689807.1:n.207+149_207+152del
XM_005254202.2:c.243+149_243+152del XP_005254259.1:n.243+149_243+152del
XM_005254203.3:c.-15-22545_-15-22542del XP_005254260.1:n.-15-22545_-15-22542del
XM_011521288.1:c.144+149_144+152del XP_011519590.1:n.144+149_144+152del
XM_011521289.1:c.144+149_144+152del XP_011519591.1:n.144+149_144+152del
XM_011521290.1:c.144+149_144+152del XP_011519592.1:n.144+149_144+152del
XM_005254202.3:c.243+149_243+152del XP_005254259.1:n.243+149_243+152del
XM_011521289.3:c.144+149_144+152del XP_011519591.1:n.144+149_144+152del
NM_152594.3:c.207+149_207+152del MANE Select NP_689807.1:n.207+149_207+152del