Canonical Allele Identifier: CA712577199

Gene: SPRED1

Linked Data

• dbSNP Id: rs1208184592
• gnomAD v3: 15-38351859-G-GT
• gnomAD v4: 15-38351859-G-GT
• MyVariant Identifiers: chr15:g.38644060_38644061insT (hg19) ; chr15:g.38351859_38351860insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351861dup , CM000677.2:g.38351861dup	GRCh38
NC_000015.9:g.38644062dup , CM000677.1:g.38644062dup	GRCh37
NC_000015.8:g.36431354dup	NCBI36
NG_008980.1:g.104011dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.*197dup MANE Select	ENSP00000299084.4:n.*197dup
ENST00000299084.8:c.*197dup	ENSP00000299084.4:n.*197dup
NM_152594.2:c.*197dup	NP_689807.1:n.*197dup
XM_005254202.2:c.*197dup	XP_005254259.1:n.*197dup
XM_005254203.3:c.*197dup	XP_005254260.1:n.*197dup
XM_011521288.1:c.*197dup	XP_011519590.1:n.*197dup
XM_011521289.1:c.*197dup	XP_011519591.1:n.*197dup
XM_011521290.1:c.*197dup	XP_011519592.1:n.*197dup
XM_005254202.3:c.*197dup	XP_005254259.1:n.*197dup
XM_011521289.3:c.*197dup	XP_011519591.1:n.*197dup
NM_152594.3:c.*197dup MANE Select	NP_689807.1:n.*197dup