Canonical Allele Identifier: CA2573150675

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1452330
• ClinVar RCV Id: RCV001999753
• dbSNP Id: rs2141016692

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351566_38351567del , CM000677.2:g.38351566_38351567del	GRCh38
NC_000015.9:g.38643767_38643768del , CM000677.1:g.38643767_38643768del	GRCh37
NC_000015.8:g.36431059_36431060del	NCBI36
NG_008980.1:g.103716_103717del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.1237_1238del MANE Select	ENSP00000299084.4:p.Ile413CysfsTer18
ENST00000299084.8:c.1237_1238del	ENSP00000299084.4:p.Ile413CysfsTer18
NM_152594.2:c.1237_1238del	NP_689807.1:p.Ile413CysfsTer18
XM_005254202.2:c.1273_1274del	XP_005254259.1:p.Ile425CysfsTer18
XM_005254203.3:c.1015_1016del	XP_005254260.1:p.Ile339CysfsTer18
XM_011521288.1:c.1174_1175del	XP_011519590.1:p.Ile392CysfsTer18
XM_011521289.1:c.1174_1175del	XP_011519591.1:p.Ile392CysfsTer18
XM_011521290.1:c.1174_1175del	XP_011519592.1:p.Ile392CysfsTer18
XM_005254202.3:c.1273_1274del	XP_005254259.1:p.Ile425CysfsTer18
XM_011521289.3:c.1174_1175del	XP_011519591.1:p.Ile392CysfsTer18
NM_152594.3:c.1237_1238del MANE Select	NP_689807.1:p.Ile413CysfsTer18