Canonical Allele Identifier: CA2695211105

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503116del , CM000671.2:g.124503116del	GRCh38
NC_000009.11:g.127265395del , CM000671.1:g.127265395del	GRCh37
NC_000009.10:g.126305216del	NCBI36
NG_008176.1:g.9305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.207del MANE Select	ENSP00000362690.4:p.Phe70SerfsTer5
ENST00000373588.8:c.207del	ENSP00000362690.4:p.Phe70SerfsTer5
ENST00000455734.1:c.207del	ENSP00000393245.1:p.Phe70SerfsTer5
ENST00000620110.4:c.207del	ENSP00000483309.1:p.Phe70SerfsTer5
NM_004959.4:c.207del	NP_004950.2:p.Phe70SerfsTer5
XM_005251871.2:c.207del	XP_005251928.1:p.Phe70SerfsTer5
XM_005251872.3:c.-18+178del	XP_005251929.1:n.-18+178del
XM_011518455.1:c.207del	XP_011516757.1:p.Phe70SerfsTer5
XM_011518456.1:c.207del	XP_011516758.1:p.Phe70SerfsTer5
NM_004959.5:c.207del MANE Select	NP_004950.2:p.Phe70SerfsTer5