Canonical Allele Identifier: CA1878469561

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500629_124500632delinsCCTT , CM000671.2:g.124500629_124500632delinsCCTT	GRCh38
NC_000009.11:g.127262908_127262911delinsCCTT , CM000671.1:g.127262908_127262911delinsCCTT	GRCh37
NC_000009.10:g.126302729_126302732delinsCCTT	NCBI36
NG_008176.1:g.11789_11792delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.328_331delinsAAGG MANE Select	ENSP00000362690.4:p.Lys110=
ENST00000373587.3:c.39+316_39+319delinsAAGG	ENSP00000362689.3:n.39+316_39+319delinsAAGG
ENST00000373588.8:c.328_331delinsAAGG	ENSP00000362690.4:p.Lys110=
ENST00000455734.1:c.328_331delinsAAGG	ENSP00000393245.1:p.Lys110=
ENST00000620110.4:c.328_331delinsAAGG	ENSP00000483309.1:p.Lys110=
NM_004959.4:c.328_331delinsAAGG	NP_004950.2:p.Lys110=
XM_005251871.2:c.328_331delinsAAGG	XP_005251928.1:p.Lys110=
XM_005251872.3:c.67_70delinsAAGG	XP_005251929.1:p.Lys23=
XM_011518455.1:c.328_331delinsAAGG	XP_011516757.1:p.Lys110=
XM_011518456.1:c.328_331delinsAAGG	XP_011516758.1:p.Lys110=
NM_004959.5:c.328_331delinsAAGG MANE Select	NP_004950.2:p.Lys110=