Canonical Allele Identifier: CA2577002020
Gene: SPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891477_72891481del , CM000664.2:g.72891477_72891481del GRCh38
NC_000002.11:g.73118606_73118610del , CM000664.1:g.73118606_73118610del GRCh37
NC_000002.10:g.72972114_72972118del NCBI36
NG_008234.1:g.9095_9099del

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.726_730del MANE Select ENSP00000234454.5:p.Ser243ThrfsTer16
ENST00000234454.5:c.726_730del ENSP00000234454.5:p.Ser243ThrfsTer16
ENST00000498749.1:n.671_675del
NM_003124.4:c.726_730del NP_003115.1:p.Ser243ThrfsTer16
NM_003124.5:c.726_730del MANE Select NP_003115.1:p.Ser243ThrfsTer16