Canonical Allele Identifier: CA617495217

Gene: SPRED1

Linked Data

• dbSNP Id: rs1310977122
• gnomAD v2: 15-38545453-CT-C
• gnomAD v3: 15-38253252-CT-C
• gnomAD v4: 15-38253252-CT-C
• MyVariant Identifiers: chr15:g.38545454del (hg19) ; chr15:g.38253253del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253253del , CM000677.2:g.38253253del	GRCh38
NC_000015.9:g.38545454del , CM000677.1:g.38545454del	GRCh37
NC_000015.8:g.36332746del	NCBI36
NG_008980.1:g.5403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.32+36del MANE Select	ENSP00000299084.4:n.32+36del
ENST00000299084.8:c.32+36del	ENSP00000299084.4:n.32+36del
ENST00000561205.1:n.370+36del
ENST00000561317.1:c.-96+36del	ENSP00000453680.1:n.-96+36del
NM_152594.2:c.32+36del	NP_689807.1:n.32+36del
XM_005254202.2:c.32+36del	XP_005254259.1:n.32+36del
XM_005254203.3:c.-16+36del	XP_005254260.1:n.-16+36del
XM_005254202.3:c.32+36del	XP_005254259.1:n.32+36del
XR_001751484.1:n.87+314del
NM_152594.3:c.32+36del MANE Select	NP_689807.1:n.32+36del