Canonical Allele Identifier: CA2627716462
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38352137_38352138del , CM000677.2:g.38352137_38352138del GRCh38
NC_000015.9:g.38644338_38644339del , CM000677.1:g.38644338_38644339del GRCh37
NC_000015.8:g.36431630_36431631del NCBI36
NG_008980.1:g.104287_104288del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.*473_*474del MANE Select ENSP00000299084.4:n.*473_*474del
ENST00000299084.8:c.*473_*474del ENSP00000299084.4:n.*473_*474del
NM_152594.2:c.*473_*474del NP_689807.1:n.*473_*474del
XM_005254202.2:c.*473_*474del XP_005254259.1:n.*473_*474del
XM_005254203.3:c.*473_*474del XP_005254260.1:n.*473_*474del
XM_011521288.1:c.*473_*474del XP_011519590.1:n.*473_*474del
XM_011521289.1:c.*473_*474del XP_011519591.1:n.*473_*474del
XM_011521290.1:c.*473_*474del XP_011519592.1:n.*473_*474del
XM_005254202.3:c.*473_*474del XP_005254259.1:n.*473_*474del
XM_011521289.3:c.*473_*474del XP_011519591.1:n.*473_*474del
NM_152594.3:c.*473_*474del MANE Select NP_689807.1:n.*473_*474del