Canonical Allele Identifier: CA2170812903
Gene: SPRED1 HGNC NCBI

Linked Data

dbSNP Id: rs1775640186

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351856_38351861del , CM000677.2:g.38351856_38351861del GRCh38
NC_000015.9:g.38644057_38644062del , CM000677.1:g.38644057_38644062del GRCh37
NC_000015.8:g.36431349_36431354del NCBI36
NG_008980.1:g.104006_104011del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.*192_*197del MANE Select ENSP00000299084.4:n.*192_*197del
ENST00000299084.8:c.*192_*197del ENSP00000299084.4:n.*192_*197del
NM_152594.2:c.*192_*197del NP_689807.1:n.*192_*197del
XM_005254202.2:c.*192_*197del XP_005254259.1:n.*192_*197del
XM_005254203.3:c.*192_*197del XP_005254260.1:n.*192_*197del
XM_011521288.1:c.*192_*197del XP_011519590.1:n.*192_*197del
XM_011521289.1:c.*192_*197del XP_011519591.1:n.*192_*197del
XM_011521290.1:c.*192_*197del XP_011519592.1:n.*192_*197del
XM_005254202.3:c.*192_*197del XP_005254259.1:n.*192_*197del
XM_011521289.3:c.*192_*197del XP_011519591.1:n.*192_*197del
NM_152594.3:c.*192_*197del MANE Select NP_689807.1:n.*192_*197del