Canonical Allele Identifier: CA712588576

Gene: SPRED1

Linked Data

• dbSNP Id: rs1199683532
• gnomAD v3: 15-38253275-T-TC
• gnomAD v4: 15-38253275-T-TC
• MyVariant Identifiers: chr15:g.38545476_38545477insC (hg19) ; chr15:g.38253275_38253276insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253280dup , CM000677.2:g.38253280dup	GRCh38
NC_000015.9:g.38545481dup , CM000677.1:g.38545481dup	GRCh37
NC_000015.8:g.36332773dup	NCBI36
NG_008980.1:g.5430dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.32+63dup MANE Select	ENSP00000299084.4:n.32+63dup
ENST00000299084.8:c.32+63dup	ENSP00000299084.4:n.32+63dup
ENST00000561205.1:n.370+63dup
ENST00000561317.1:c.-96+63dup	ENSP00000453680.1:n.-96+63dup
NM_152594.2:c.32+63dup	NP_689807.1:n.32+63dup
XM_005254202.2:c.32+63dup	XP_005254259.1:n.32+63dup
XM_005254203.3:c.-16+63dup	XP_005254260.1:n.-16+63dup
XM_005254202.3:c.32+63dup	XP_005254259.1:n.32+63dup
XR_001751484.1:n.87+291dup
NM_152594.3:c.32+63dup MANE Select	NP_689807.1:n.32+63dup