Canonical Allele Identifier: CA2695211100

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500654_124500659del , CM000671.2:g.124500654_124500659del	GRCh38
NC_000009.11:g.127262933_127262938del , CM000671.1:g.127262933_127262938del	GRCh37
NC_000009.10:g.126302754_126302759del	NCBI36
NG_008176.1:g.11766_11771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.305_310del MANE Select	ENSP00000362690.4:p.Asp102_Arg103del
ENST00000373587.3:c.39+293_39+298del	ENSP00000362689.3:n.39+293_39+298del
ENST00000373588.8:c.305_310del	ENSP00000362690.4:p.Asp102_Arg103del
ENST00000455734.1:c.305_310del	ENSP00000393245.1:p.Asp102_Arg103del
ENST00000620110.4:c.305_310del	ENSP00000483309.1:p.Asp102_Arg103del
NM_004959.4:c.305_310del	NP_004950.2:p.Asp102_Arg103del
XM_005251871.2:c.305_310del	XP_005251928.1:p.Asp102_Arg103del
XM_005251872.3:c.44_49del	XP_005251929.1:p.Asp15_Arg16del
XM_011518455.1:c.305_310del	XP_011516757.1:p.Asp102_Arg103del
XM_011518456.1:c.305_310del	XP_011516758.1:p.Asp102_Arg103del
NM_004959.5:c.305_310del MANE Select	NP_004950.2:p.Asp102_Arg103del