Canonical Allele Identifier: CA2695211104
Gene: NR5A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503086del , CM000671.2:g.124503086del GRCh38
NC_000009.11:g.127265365del , CM000671.1:g.127265365del GRCh37
NC_000009.10:g.126305186del NCBI36
NG_008176.1:g.9336del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.238del MANE Select ENSP00000362690.4:p.Leu80TrpfsTer9
ENST00000373588.8:c.238del ENSP00000362690.4:p.Leu80TrpfsTer9
ENST00000455734.1:c.238del ENSP00000393245.1:p.Leu80TrpfsTer9
ENST00000620110.4:c.238del ENSP00000483309.1:p.Leu80TrpfsTer9
NM_004959.4:c.238del NP_004950.2:p.Leu80TrpfsTer9
XM_005251871.2:c.238del XP_005251928.1:p.Leu80TrpfsTer9
XM_005251872.3:c.-18+209del XP_005251929.1:n.-18+209del
XM_011518455.1:c.238del XP_011516757.1:p.Leu80TrpfsTer9
XM_011518456.1:c.238del XP_011516758.1:p.Leu80TrpfsTer9
NM_004959.5:c.238del MANE Select NP_004950.2:p.Leu80TrpfsTer9
Search 100 bp 5'
Search 100 bp 3'