Canonical Allele Identifier: CA2627716212

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351378-GAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351380_38351382del , CM000677.2:g.38351380_38351382del	GRCh38
NC_000015.9:g.38643581_38643583del , CM000677.1:g.38643581_38643583del	GRCh37
NC_000015.8:g.36430873_36430875del	NCBI36
NG_008980.1:g.103530_103532del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.1051_1053del MANE Select	ENSP00000299084.4:p.Lys351del
ENST00000299084.8:c.1051_1053del	ENSP00000299084.4:p.Lys351del
NM_152594.2:c.1051_1053del	NP_689807.1:p.Lys351del
XM_005254202.2:c.1087_1089del	XP_005254259.1:p.Lys363del
XM_005254203.3:c.829_831del	XP_005254260.1:p.Lys277del
XM_011521288.1:c.988_990del	XP_011519590.1:p.Lys330del
XM_011521289.1:c.988_990del	XP_011519591.1:p.Lys330del
XM_011521290.1:c.988_990del	XP_011519592.1:p.Lys330del
XM_005254202.3:c.1087_1089del	XP_005254259.1:p.Lys363del
XM_011521289.3:c.988_990del	XP_011519591.1:p.Lys330del
NM_152594.3:c.1051_1053del MANE Select	NP_689807.1:p.Lys351del