Canonical Allele Identifier: CA2659569842
Gene: SPR HGNC NCBI

Linked Data

gnomAD v4: 2-72891674-AGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891675_72891676del , CM000664.2:g.72891675_72891676del GRCh38
NC_000002.11:g.73118804_73118805del , CM000664.1:g.73118804_73118805del GRCh37
NC_000002.10:g.72972312_72972313del NCBI36
NG_008234.1:g.9293_9294del

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.*138_*139del MANE Select ENSP00000234454.5:n.*138_*139del
ENST00000234454.5:c.*138_*139del ENSP00000234454.5:n.*138_*139del
ENST00000498749.1:n.869_870del
NM_003124.4:c.*138_*139del NP_003115.1:n.*138_*139del
NM_003124.5:c.*138_*139del MANE Select NP_003115.1:n.*138_*139del
Search 100 bp 5'
Search 100 bp 3'