Canonical Allele Identifier: CA2561254285

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500805_124500806insA , CM000671.2:g.124500805_124500806insA	GRCh38
NC_000009.11:g.127263084_127263085insA , CM000671.1:g.127263084_127263085insA	GRCh37
NC_000009.10:g.126302905_126302906insA	NCBI36
NG_008176.1:g.11615_11616insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.245-91_245-90insT MANE Select	ENSP00000362690.4:n.245-91_245-90insT
ENST00000373587.3:c.39+142_39+143insT	ENSP00000362689.3:n.39+142_39+143insT
ENST00000373588.8:c.245-91_245-90insT	ENSP00000362690.4:n.245-91_245-90insT
ENST00000455734.1:c.245-91_245-90insT	ENSP00000393245.1:n.245-91_245-90insT
ENST00000620110.4:c.245-91_245-90insT	ENSP00000483309.1:n.245-91_245-90insT
NM_004959.4:c.245-91_245-90insT	NP_004950.2:n.245-91_245-90insT
XM_005251871.2:c.245-91_245-90insT	XP_005251928.1:n.245-91_245-90insT
XM_005251872.3:c.-17-91_-17-90insT	XP_005251929.1:n.-17-91_-17-90insT
XM_011518455.1:c.245-91_245-90insT	XP_011516757.1:n.245-91_245-90insT
XM_011518456.1:c.245-91_245-90insT	XP_011516758.1:n.245-91_245-90insT
NM_004959.5:c.245-91_245-90insT MANE Select	NP_004950.2:n.245-91_245-90insT