Canonical Allele Identifier: CA2627716340
Gene: SPRED1 HGNC NCBI

Linked Data

gnomAD v4: 15-38351887-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351890del , CM000677.2:g.38351890del GRCh38
NC_000015.9:g.38644091del , CM000677.1:g.38644091del GRCh37
NC_000015.8:g.36431383del NCBI36
NG_008980.1:g.104040del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.*226del MANE Select ENSP00000299084.4:n.*226del
ENST00000299084.8:c.*226del ENSP00000299084.4:n.*226del
NM_152594.2:c.*226del NP_689807.1:n.*226del
XM_005254202.2:c.*226del XP_005254259.1:n.*226del
XM_005254203.3:c.*226del XP_005254260.1:n.*226del
XM_011521288.1:c.*226del XP_011519590.1:n.*226del
XM_011521289.1:c.*226del XP_011519591.1:n.*226del
XM_011521290.1:c.*226del XP_011519592.1:n.*226del
XM_005254202.3:c.*226del XP_005254259.1:n.*226del
XM_011521289.3:c.*226del XP_011519591.1:n.*226del
NM_152594.3:c.*226del MANE Select NP_689807.1:n.*226del
Search 100 bp 5'
Search 100 bp 3'