Canonical Allele Identifier: CA1878473027

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503218_124503219delinsGC , CM000671.2:g.124503218_124503219delinsGC	GRCh38
NC_000009.11:g.127265497_127265498delinsGC , CM000671.1:g.127265497_127265498delinsGC	GRCh37
NC_000009.10:g.126305318_126305319delinsGC	NCBI36
NG_008176.1:g.9202_9203delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.104_105delinsGC MANE Select	ENSP00000362690.4:p.Gly35=
ENST00000373588.8:c.104_105delinsGC	ENSP00000362690.4:p.Gly35=
ENST00000455734.1:c.104_105delinsGC	ENSP00000393245.1:p.Gly35=
ENST00000620110.4:c.104_105delinsGC	ENSP00000483309.1:p.Gly35=
NM_004959.4:c.104_105delinsGC	NP_004950.2:p.Gly35=
XM_005251871.2:c.104_105delinsGC	XP_005251928.1:p.Gly35=
XM_005251872.3:c.-18+75_-18+76delinsGC	XP_005251929.1:n.-18+75_-18+76delinsGC
XM_011518455.1:c.104_105delinsGC	XP_011516757.1:p.Gly35=
XM_011518456.1:c.104_105delinsGC	XP_011516758.1:p.Gly35=
NM_004959.5:c.104_105delinsGC MANE Select	NP_004950.2:p.Gly35=