Canonical Allele Identifier: CA2649046607
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI

Linked Data

gnomAD v4: 1-169731737-CAGGGA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731746_169731750del , CM000663.2:g.169731746_169731750del GRCh38
NC_000001.10:g.169700887_169700891del , CM000663.1:g.169700887_169700891del GRCh37
NC_000001.9:g.167967511_167967515del NCBI36
NG_012124.1:g.7338_7342del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.529+93_529+97del (SELE) MANE Select ENSP00000331736.7:n.529+93_529+97del
ENST00000333360.11:c.529+93_529+97del (SELE) ENSP00000331736.7:n.529+93_529+97del
ENST00000367774.1:c.529+93_529+97del (SELE) ENSP00000356748.1:n.529+93_529+97del
ENST00000367775.5:c.529+93_529+97del (SELE) ENSP00000356749.1:n.529+93_529+97del
ENST00000367776.5:c.529+93_529+97del (SELE) ENSP00000356750.1:n.529+93_529+97del
ENST00000367777.5:c.529+93_529+97del (SELE) ENSP00000356751.1:n.529+93_529+97del
ENST00000461085.1:n.305_309del (SELE)
ENST00000498289.5:n.851+47814_851+47818del (FIRRM)
NM_000450.2:c.529+93_529+97del (SELE) MANE Select NP_000441.2:n.529+93_529+97del
Search 100 bp 5'
Search 100 bp 3'