Canonical Allele Identifier: CA2691611071

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124500335-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500338del , CM000671.2:g.124500338del	GRCh38
NC_000009.11:g.127262617del , CM000671.1:g.127262617del	GRCh37
NC_000009.10:g.126302438del	NCBI36
NG_008176.1:g.12085del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.624del MANE Select	ENSP00000362690.4:p.Leu209CysfsTer?
ENST00000373587.3:c.40-64del	ENSP00000362689.3:n.40-64del
ENST00000373588.8:c.624del	ENSP00000362690.4:p.Leu209CysfsTer?
ENST00000620110.4:c.624del	ENSP00000483309.1:p.Leu209CysfsTer?
NM_004959.4:c.624del	NP_004950.2:p.Leu209CysfsTer?
XM_005251871.2:c.624del	XP_005251928.1:p.Leu209CysfsTer?
XM_005251872.3:c.363del	XP_005251929.1:p.Leu122CysfsTer?
XM_011518455.1:c.624del	XP_011516757.1:p.Leu209CysfsTer?
XM_011518456.1:c.624del	XP_011516758.1:p.Leu209CysfsTer?
NM_004959.5:c.624del MANE Select	NP_004950.2:p.Leu209CysfsTer?