Canonical Allele Identifier: CA712577381
Gene: SPRED1 HGNC NCBI

Linked Data

dbSNP Id: rs1284842629

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38352127_38352130del , CM000677.2:g.38352127_38352130del GRCh38
NC_000015.9:g.38644328_38644331del , CM000677.1:g.38644328_38644331del GRCh37
NC_000015.8:g.36431620_36431623del NCBI36
NG_008980.1:g.104277_104280del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.*463_*466del MANE Select ENSP00000299084.4:n.*463_*466del
ENST00000299084.8:c.*463_*466del ENSP00000299084.4:n.*463_*466del
NM_152594.2:c.*463_*466del NP_689807.1:n.*463_*466del
XM_005254202.2:c.*463_*466del XP_005254259.1:n.*463_*466del
XM_005254203.3:c.*463_*466del XP_005254260.1:n.*463_*466del
XM_011521288.1:c.*463_*466del XP_011519590.1:n.*463_*466del
XM_011521289.1:c.*463_*466del XP_011519591.1:n.*463_*466del
XM_011521290.1:c.*463_*466del XP_011519592.1:n.*463_*466del
XM_005254202.3:c.*463_*466del XP_005254259.1:n.*463_*466del
XM_011521289.3:c.*463_*466del XP_011519591.1:n.*463_*466del
NM_152594.3:c.*463_*466del MANE Select NP_689807.1:n.*463_*466del