Canonical Allele Identifier: CA2695219921
Gene: SPRED1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299389_38299393del , CM000677.2:g.38299389_38299393del GRCh38
NC_000015.9:g.38591590_38591594del , CM000677.1:g.38591590_38591594del GRCh37
NC_000015.8:g.36378882_36378886del NCBI36
NG_008980.1:g.51539_51543del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.49_53del MANE Select ENSP00000299084.4:p.Val17SerfsTer8
ENST00000299084.8:c.49_53del ENSP00000299084.4:p.Val17SerfsTer8
ENST00000561205.1:n.387_391del
ENST00000561317.1:c.-15_-11del ENSP00000453680.1:n.-15_-11del
NM_152594.2:c.49_53del NP_689807.1:p.Val17SerfsTer8
XM_005254202.2:c.85_89del XP_005254259.1:p.Val29SerfsTer8
XM_005254203.3:c.-15-22852_-15-22848del XP_005254260.1:n.-15-22852_-15-22848del
XM_011521288.1:c.-15_-11del XP_011519590.1:n.-15_-11del
XM_011521289.1:c.-15_-11del XP_011519591.1:n.-15_-11del
XM_011521290.1:c.-15_-11del XP_011519592.1:n.-15_-11del
XM_005254202.3:c.85_89del XP_005254259.1:p.Val29SerfsTer8
XM_011521289.3:c.-15_-11del XP_011519591.1:n.-15_-11del
NM_152594.3:c.49_53del MANE Select NP_689807.1:p.Val17SerfsTer8