Canonical Allele Identifier: CA269287911

Gene: SPRED1

Linked Data

• dbSNP Id: rs34384822
• gnomAD v2: 15-38591893-TACA-T
• gnomAD v3: 15-38299692-TACA-T
• gnomAD v4: 15-38299692-TACA-T
• MyVariant Identifiers: chr15:g.38591894_38591896del (hg19) ; chr15:g.38299693_38299695del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38299696_38299698del , CM000677.2:g.38299696_38299698del	GRCh38
NC_000015.9:g.38591897_38591899del , CM000677.1:g.38591897_38591899del	GRCh37
NC_000015.8:g.36379189_36379191del	NCBI36
NG_008980.1:g.51846_51848del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.207+149_207+151del MANE Select	ENSP00000299084.4:n.207+149_207+151del
ENST00000299084.8:c.207+149_207+151del	ENSP00000299084.4:n.207+149_207+151del
ENST00000561205.1:n.545+149_545+151del
ENST00000561317.1:c.144+149_144+151del	ENSP00000453680.1:n.144+149_144+151del
NM_152594.2:c.207+149_207+151del	NP_689807.1:n.207+149_207+151del
XM_005254202.2:c.243+149_243+151del	XP_005254259.1:n.243+149_243+151del
XM_005254203.3:c.-15-22545_-15-22543del	XP_005254260.1:n.-15-22545_-15-22543del
XM_011521288.1:c.144+149_144+151del	XP_011519590.1:n.144+149_144+151del
XM_011521289.1:c.144+149_144+151del	XP_011519591.1:n.144+149_144+151del
XM_011521290.1:c.144+149_144+151del	XP_011519592.1:n.144+149_144+151del
XM_005254202.3:c.243+149_243+151del	XP_005254259.1:n.243+149_243+151del
XM_011521289.3:c.144+149_144+151del	XP_011519591.1:n.144+149_144+151del
NM_152594.3:c.207+149_207+151del MANE Select	NP_689807.1:n.207+149_207+151del