Canonical Allele Identifier: CA2170789077
Gene: SPRED1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299648_38299649delinsGT , CM000677.2:g.38299648_38299649delinsGT GRCh38
NC_000015.9:g.38591849_38591850delinsGT , CM000677.1:g.38591849_38591850delinsGT GRCh37
NC_000015.8:g.36379141_36379142delinsGT NCBI36
NG_008980.1:g.51798_51799delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.207+101_207+102delinsGT MANE Select ENSP00000299084.4:n.207+101_207+102delinsGT
ENST00000299084.8:c.207+101_207+102delinsGT ENSP00000299084.4:n.207+101_207+102delinsGT
ENST00000561205.1:n.545+101_545+102delinsGT
ENST00000561317.1:c.144+101_144+102delinsGT ENSP00000453680.1:n.144+101_144+102delinsGT
NM_152594.2:c.207+101_207+102delinsGT NP_689807.1:n.207+101_207+102delinsGT
XM_005254202.2:c.243+101_243+102delinsGT XP_005254259.1:n.243+101_243+102delinsGT
XM_005254203.3:c.-15-22593_-15-22592delinsGT XP_005254260.1:n.-15-22593_-15-22592delinsGT
XM_011521288.1:c.144+101_144+102delinsGT XP_011519590.1:n.144+101_144+102delinsGT
XM_011521289.1:c.144+101_144+102delinsGT XP_011519591.1:n.144+101_144+102delinsGT
XM_011521290.1:c.144+101_144+102delinsGT XP_011519592.1:n.144+101_144+102delinsGT
XM_005254202.3:c.243+101_243+102delinsGT XP_005254259.1:n.243+101_243+102delinsGT
XM_011521289.3:c.144+101_144+102delinsGT XP_011519591.1:n.144+101_144+102delinsGT
NM_152594.3:c.207+101_207+102delinsGT MANE Select NP_689807.1:n.207+101_207+102delinsGT