Canonical Allele Identifier: CA2695211106

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503162_124503185del , CM000671.2:g.124503162_124503185del	GRCh38
NC_000009.11:g.127265441_127265464del , CM000671.1:g.127265441_127265464del	GRCh37
NC_000009.10:g.126305262_126305285del	NCBI36
NG_008176.1:g.9238_9261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.140_163del MANE Select	ENSP00000362690.4:p.Tyr47_Ser54del
ENST00000373588.8:c.140_163del	ENSP00000362690.4:p.Tyr47_Ser54del
ENST00000455734.1:c.140_163del	ENSP00000393245.1:p.Tyr47_Ser54del
ENST00000620110.4:c.140_163del	ENSP00000483309.1:p.Tyr47_Ser54del
NM_004959.4:c.140_163del	NP_004950.2:p.Tyr47_Ser54del
XM_005251871.2:c.140_163del	XP_005251928.1:p.Tyr47_Ser54del
XM_005251872.3:c.-18+111_-18+134del	XP_005251929.1:n.-18+111_-18+134del
XM_011518455.1:c.140_163del	XP_011516757.1:p.Tyr47_Ser54del
XM_011518456.1:c.140_163del	XP_011516758.1:p.Tyr47_Ser54del
NM_004959.5:c.140_163del MANE Select	NP_004950.2:p.Tyr47_Ser54del