Canonical Allele Identifier: CA617500731

Gene: SPRED1

Linked Data

• dbSNP Id: rs1182337808
• gnomAD v2: 15-38591855-ATGTTTCTGGAGC-A
• gnomAD v3: 15-38299654-ATGTTTCTGGAGC-A
• gnomAD v4: 15-38299654-ATGTTTCTGGAGC-A
• MyVariant Identifiers: chr15:g.38591856_38591867del (hg19) ; chr15:g.38299655_38299666del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38299663_38299674del , CM000677.2:g.38299663_38299674del	GRCh38
NC_000015.9:g.38591864_38591875del , CM000677.1:g.38591864_38591875del	GRCh37
NC_000015.8:g.36379156_36379167del	NCBI36
NG_008980.1:g.51813_51824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.207+116_207+127del MANE Select	ENSP00000299084.4:n.207+116_207+127del
ENST00000299084.8:c.207+116_207+127del	ENSP00000299084.4:n.207+116_207+127del
ENST00000561205.1:n.545+116_545+127del
ENST00000561317.1:c.144+116_144+127del	ENSP00000453680.1:n.144+116_144+127del
NM_152594.2:c.207+116_207+127del	NP_689807.1:n.207+116_207+127del
XM_005254202.2:c.243+116_243+127del	XP_005254259.1:n.243+116_243+127del
XM_005254203.3:c.-15-22578_-15-22567del	XP_005254260.1:n.-15-22578_-15-22567del
XM_011521288.1:c.144+116_144+127del	XP_011519590.1:n.144+116_144+127del
XM_011521289.1:c.144+116_144+127del	XP_011519591.1:n.144+116_144+127del
XM_011521290.1:c.144+116_144+127del	XP_011519592.1:n.144+116_144+127del
XM_005254202.3:c.243+116_243+127del	XP_005254259.1:n.243+116_243+127del
XM_011521289.3:c.144+116_144+127del	XP_011519591.1:n.144+116_144+127del
NM_152594.3:c.207+116_207+127del MANE Select	NP_689807.1:n.207+116_207+127del