Canonical Allele Identifier: CA2627716299
Gene: SPRED1 HGNC NCBI

Linked Data

gnomAD v4: 15-38351825-GCCT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351826_38351828del , CM000677.2:g.38351826_38351828del GRCh38
NC_000015.9:g.38644027_38644029del , CM000677.1:g.38644027_38644029del GRCh37
NC_000015.8:g.36431319_36431321del NCBI36
NG_008980.1:g.103976_103978del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.*162_*164del MANE Select ENSP00000299084.4:n.*162_*164del
ENST00000299084.8:c.*162_*164del ENSP00000299084.4:n.*162_*164del
NM_152594.2:c.*162_*164del NP_689807.1:n.*162_*164del
XM_005254202.2:c.*162_*164del XP_005254259.1:n.*162_*164del
XM_005254203.3:c.*162_*164del XP_005254260.1:n.*162_*164del
XM_011521288.1:c.*162_*164del XP_011519590.1:n.*162_*164del
XM_011521289.1:c.*162_*164del XP_011519591.1:n.*162_*164del
XM_011521290.1:c.*162_*164del XP_011519592.1:n.*162_*164del
XM_005254202.3:c.*162_*164del XP_005254259.1:n.*162_*164del
XM_011521289.3:c.*162_*164del XP_011519591.1:n.*162_*164del
NM_152594.3:c.*162_*164del MANE Select NP_689807.1:n.*162_*164del
Search 100 bp 5'
Search 100 bp 3'