Canonical Allele Identifier: CA1139771257

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 1805655
• ClinVar RCV Id: RCV002472073

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503159del , CM000671.2:g.124503159del	GRCh38
NC_000009.11:g.127265438del , CM000671.1:g.127265438del	GRCh37
NC_000009.10:g.126305259del	NCBI36
NG_008176.1:g.9262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.164del MANE Select	ENSP00000362690.4:p.Cys55SerfsTer20
ENST00000373588.8:c.164del	ENSP00000362690.4:p.Cys55SerfsTer20
ENST00000455734.1:c.164del	ENSP00000393245.1:p.Cys55SerfsTer20
ENST00000620110.4:c.164del	ENSP00000483309.1:p.Cys55SerfsTer20
NM_004959.4:c.164del	NP_004950.2:p.Cys55SerfsTer20
XM_005251871.2:c.164del	XP_005251928.1:p.Cys55SerfsTer20
XM_005251872.3:c.-18+135del	XP_005251929.1:n.-18+135del
XM_011518455.1:c.164del	XP_011516757.1:p.Cys55SerfsTer20
XM_011518456.1:c.164del	XP_011516758.1:p.Cys55SerfsTer20
NM_004959.5:c.164del MANE Select	NP_004950.2:p.Cys55SerfsTer20