Canonical Allele Identifier: CA712581081
Gene: SPRED1 HGNC NCBI

Linked Data

dbSNP Id: rs1268164015

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299553_38299556del , CM000677.2:g.38299553_38299556del GRCh38
NC_000015.9:g.38591754_38591757del , CM000677.1:g.38591754_38591757del GRCh37
NC_000015.8:g.36379046_36379049del NCBI36
NG_008980.1:g.51703_51706del

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.207+6_207+9del MANE Select ENSP00000299084.4:n.207+6_207+9del
ENST00000299084.8:c.207+6_207+9del ENSP00000299084.4:n.207+6_207+9del
ENST00000561205.1:n.545+6_545+9del
ENST00000561317.1:c.144+6_144+9del ENSP00000453680.1:n.144+6_144+9del
NM_152594.2:c.207+6_207+9del NP_689807.1:n.207+6_207+9del
XM_005254202.2:c.243+6_243+9del XP_005254259.1:n.243+6_243+9del
XM_005254203.3:c.-15-22688_-15-22685del XP_005254260.1:n.-15-22688_-15-22685del
XM_011521288.1:c.144+6_144+9del XP_011519590.1:n.144+6_144+9del
XM_011521289.1:c.144+6_144+9del XP_011519591.1:n.144+6_144+9del
XM_011521290.1:c.144+6_144+9del XP_011519592.1:n.144+6_144+9del
XM_005254202.3:c.243+6_243+9del XP_005254259.1:n.243+6_243+9del
XM_011521289.3:c.144+6_144+9del XP_011519591.1:n.144+6_144+9del
NM_152594.3:c.207+6_207+9del MANE Select NP_689807.1:n.207+6_207+9del