Canonical Allele Identifier: CA2627716207

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351306-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351309_38351310del , CM000677.2:g.38351309_38351310del	GRCh38
NC_000015.9:g.38643510_38643511del , CM000677.1:g.38643510_38643511del	GRCh37
NC_000015.8:g.36430802_36430803del	NCBI36
NG_008980.1:g.103459_103460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.980_981del MANE Select	ENSP00000299084.4:p.Lys327ArgfsTer4
ENST00000299084.8:c.980_981del	ENSP00000299084.4:p.Lys327ArgfsTer4
NM_152594.2:c.980_981del	NP_689807.1:p.Lys327ArgfsTer4
XM_005254202.2:c.1016_1017del	XP_005254259.1:p.Lys339ArgfsTer4
XM_005254203.3:c.758_759del	XP_005254260.1:p.Lys253ArgfsTer4
XM_011521288.1:c.917_918del	XP_011519590.1:p.Lys306ArgfsTer4
XM_011521289.1:c.917_918del	XP_011519591.1:p.Lys306ArgfsTer4
XM_011521290.1:c.917_918del	XP_011519592.1:p.Lys306ArgfsTer4
XM_005254202.3:c.1016_1017del	XP_005254259.1:p.Lys339ArgfsTer4
XM_011521289.3:c.917_918del	XP_011519591.1:p.Lys306ArgfsTer4
NM_152594.3:c.980_981del MANE Select	NP_689807.1:p.Lys327ArgfsTer4