Canonical Allele Identifier: CA2643540723
Gene: SPEN HGNC NCBI

Linked Data

gnomAD v4: 1-15930687-GTTGAC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930689_15930693del , CM000663.2:g.15930689_15930693del GRCh38
NC_000001.10:g.16257184_16257188del , CM000663.1:g.16257184_16257188del GRCh37
NC_000001.9:g.16129771_16129775del NCBI36
NG_050663.1:g.87826_87830del

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5300_*5304del ENSP00000388021.2:n.*5300_*5304del
ENST00000704274.1:c.46_50del
ENST00000375759.8:c.4449_4453del MANE Select ENSP00000364912.3:p.Asp1484CysfsTer16
ENST00000375759.7:c.4449_4453del ENSP00000364912.3:p.Asp1484CysfsTer16
NM_015001.2:c.4449_4453del NP_055816.2:p.Asp1484CysfsTer16
NM_015001.3:c.4449_4453del MANE Select NP_055816.2:p.Asp1484CysfsTer16
Search 100 bp 5'
Search 100 bp 3'