Canonical Allele Identifier: CA1878473422

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503357_124503362delinsGCACAG , CM000671.2:g.124503357_124503362delinsGCACAG	GRCh38
NC_000009.11:g.127265636_127265641delinsGCACAG , CM000671.1:g.127265636_127265641delinsGCACAG	GRCh37
NC_000009.10:g.126305457_126305462delinsGCACAG	NCBI36
NG_008176.1:g.9059_9064delinsCTGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.34_39delinsCTGTGC MANE Select	ENSP00000362690.4:p.Leu12=
ENST00000373588.8:c.34_39delinsCTGTGC	ENSP00000362690.4:p.Leu12=
ENST00000455734.1:c.34_39delinsCTGTGC	ENSP00000393245.1:p.Leu12=
ENST00000620110.4:c.34_39delinsCTGTGC	ENSP00000483309.1:p.Leu12=
NM_004959.4:c.34_39delinsCTGTGC	NP_004950.2:p.Leu12=
XM_005251871.2:c.34_39delinsCTGTGC	XP_005251928.1:p.Leu12=
XM_005251872.3:c.-86_-81delinsCTGTGC	XP_005251929.1:n.-86_-81delinsCTGTGC
XM_011518455.1:c.34_39delinsCTGTGC	XP_011516757.1:p.Leu12=
XM_011518456.1:c.34_39delinsCTGTGC	XP_011516758.1:p.Leu12=
NM_004959.5:c.34_39delinsCTGTGC MANE Select	NP_004950.2:p.Leu12=