Canonical Allele Identifier: CA912973685
Gene: SLC15A4 HGNC NCBI

Linked Data

dbSNP Id: rs1955731131
MyVariant Identifiers: chr12:g.129299544del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128814999del , CM000674.2:g.128814999del GRCh38
NC_000012.11:g.129299544del , CM000674.1:g.129299544del GRCh37
NC_000012.10:g.127865497del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.618del MANE Select ENSP00000266771.5:p.Ile207SerfsTer4
ENST00000266771.9:c.618del ENSP00000266771.5:p.Ile207SerfsTer4
ENST00000366292.6:n.930del
ENST00000376740.8:c.197del
ENST00000376744.8:c.454del
ENST00000535272.1:n.412del
ENST00000539703.1:n.268del
NM_145648.3:c.618del NP_663623.1:p.Ile207SerfsTer4
XM_011537895.1:c.768del XP_011536197.1:p.Ile257SerfsTer4
XR_429081.2:n.641del
XR_944494.1:n.791del
XR_944495.1:n.791del
XR_944496.1:n.791del
XR_944497.1:n.791del
XM_017018791.1:c.768del XP_016874280.1:p.Ile257SerfsTer4
XM_017018792.1:c.768del XP_016874281.1:p.Ile257SerfsTer4
XM_017018793.1:c.618del XP_016874282.1:p.Ile207SerfsTer4
XR_002957287.1:n.641del
XR_944496.2:n.791del
NM_145648.4:c.618del MANE Select NP_663623.1:p.Ile207SerfsTer4