Canonical Allele Identifier: CA2170813066

Gene: SPRED1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38352238_38352242delinsGTAGA , CM000677.2:g.38352238_38352242delinsGTAGA	GRCh38
NC_000015.9:g.38644439_38644443delinsGTAGA , CM000677.1:g.38644439_38644443delinsGTAGA	GRCh37
NC_000015.8:g.36431731_36431735delinsGTAGA	NCBI36
NG_008980.1:g.104388_104392delinsGTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.*574_*578delinsGTAGA MANE Select	ENSP00000299084.4:n.*574_*578delinsGTAGA
ENST00000299084.8:c.*574_*578delinsGTAGA	ENSP00000299084.4:n.*574_*578delinsGTAGA
NM_152594.2:c.*574_*578delinsGTAGA	NP_689807.1:n.*574_*578delinsGTAGA
XM_005254202.2:c.*574_*578delinsGTAGA	XP_005254259.1:n.*574_*578delinsGTAGA
XM_005254203.3:c.*574_*578delinsGTAGA	XP_005254260.1:n.*574_*578delinsGTAGA
XM_011521288.1:c.*574_*578delinsGTAGA	XP_011519590.1:n.*574_*578delinsGTAGA
XM_011521289.1:c.*574_*578delinsGTAGA	XP_011519591.1:n.*574_*578delinsGTAGA
XM_011521290.1:c.*574_*578delinsGTAGA	XP_011519592.1:n.*574_*578delinsGTAGA
XM_005254202.3:c.*574_*578delinsGTAGA	XP_005254259.1:n.*574_*578delinsGTAGA
XM_011521289.3:c.*574_*578delinsGTAGA	XP_011519591.1:n.*574_*578delinsGTAGA
NM_152594.3:c.*574_*578delinsGTAGA MANE Select	NP_689807.1:n.*574_*578delinsGTAGA