Canonical Allele Identifier: CA968818238

Gene: SPRED1

Linked Data

• dbSNP Id: rs1888506172
• gnomAD v3: 15-38352238-GTAGA-G
• gnomAD v4: 15-38352238-GTAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38352241_38352244del , CM000677.2:g.38352241_38352244del	GRCh38
NC_000015.9:g.38644442_38644445del , CM000677.1:g.38644442_38644445del	GRCh37
NC_000015.8:g.36431734_36431737del	NCBI36
NG_008980.1:g.104391_104394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.*577_*580del MANE Select	ENSP00000299084.4:n.*577_*580del
ENST00000299084.8:c.*577_*580del	ENSP00000299084.4:n.*577_*580del
NM_152594.2:c.*577_*580del	NP_689807.1:n.*577_*580del
XM_005254202.2:c.*577_*580del	XP_005254259.1:n.*577_*580del
XM_005254203.3:c.*577_*580del	XP_005254260.1:n.*577_*580del
XM_011521288.1:c.*577_*580del	XP_011519590.1:n.*577_*580del
XM_011521289.1:c.*577_*580del	XP_011519591.1:n.*577_*580del
XM_011521290.1:c.*577_*580del	XP_011519592.1:n.*577_*580del
XM_005254202.3:c.*577_*580del	XP_005254259.1:n.*577_*580del
XM_011521289.3:c.*577_*580del	XP_011519591.1:n.*577_*580del
NM_152594.3:c.*577_*580del MANE Select	NP_689807.1:n.*577_*580del