Canonical Allele Identifier: CA2627716210

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351343-CCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351344_38351346del , CM000677.2:g.38351344_38351346del	GRCh38
NC_000015.9:g.38643545_38643547del , CM000677.1:g.38643545_38643547del	GRCh37
NC_000015.8:g.36430837_36430839del	NCBI36
NG_008980.1:g.103494_103496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1015_1017del MANE Select	ENSP00000299084.4:p.Gln339del
ENST00000299084.8:c.1015_1017del	ENSP00000299084.4:p.Gln339del
NM_152594.2:c.1015_1017del	NP_689807.1:p.Gln339del
XM_005254202.2:c.1051_1053del	XP_005254259.1:p.Gln351del
XM_005254203.3:c.793_795del	XP_005254260.1:p.Gln265del
XM_011521288.1:c.952_954del	XP_011519590.1:p.Gln318del
XM_011521289.1:c.952_954del	XP_011519591.1:p.Gln318del
XM_011521290.1:c.952_954del	XP_011519592.1:p.Gln318del
XM_005254202.3:c.1051_1053del	XP_005254259.1:p.Gln351del
XM_011521289.3:c.952_954del	XP_011519591.1:p.Gln318del
NM_152594.3:c.1015_1017del MANE Select	NP_689807.1:p.Gln339del