Canonical Allele Identifier: CA2649046681
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI

Linked Data

gnomAD v4: 1-169731839-C-CTCACACTTGAGTCCACTGAAGCCAGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731849_169731875dup , CM000663.2:g.169731849_169731875dup GRCh38
NC_000001.10:g.169700990_169701016dup , CM000663.1:g.169700990_169701016dup GRCh37
NC_000001.9:g.167967614_167967640dup NCBI36
NG_012124.1:g.7214_7240dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.498_524dup (SELE) MANE Select ENSP00000331736.7:p.Cys174_Glu175insAspProGlyPheSerGlyLeuLysC...
ENST00000333360.11:c.498_524dup (SELE) ENSP00000331736.7:p.Cys174_Glu175insAspProGlyPheSerGlyLeuLysC...
ENST00000367774.1:c.498_524dup (SELE) ENSP00000356748.1:p.Cys174_Glu175insAspProGlyPheSerGlyLeuLysC...
ENST00000367775.5:c.498_524dup (SELE) ENSP00000356749.1:p.Cys174_Glu175insAspProGlyPheSerGlyLeuLysC...
ENST00000367776.5:c.498_524dup (SELE) ENSP00000356750.1:p.Cys174_Glu175insAspProGlyPheSerGlyLeuLysC...
ENST00000367777.5:c.498_524dup (SELE) ENSP00000356751.1:p.Cys174_Glu175insAspProGlyPheSerGlyLeuLysC...
ENST00000461085.1:n.181_207dup (SELE)
ENST00000498289.5:n.851+47917_851+47943dup (FIRRM)
NM_000450.2:c.498_524dup (SELE) MANE Select NP_000441.2:p.Cys174_Glu175insAspProGlyPheSerGlyLeuLysCys
Search 100 bp 5'
Search 100 bp 3'