Canonical Allele Identifier: CA2691629231

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124500928-T-TTCCACTCCACCGAACTCACC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500937_124500956dup , CM000671.2:g.124500937_124500956dup	GRCh38
NC_000009.11:g.127263216_127263235dup , CM000671.1:g.127263216_127263235dup	GRCh37
NC_000009.10:g.126303037_126303056dup	NCBI36
NG_008176.1:g.11473_11492dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.245-233_245-214dup MANE Select	ENSP00000362690.4:n.245-233_245-214dup
ENST00000373587.3:c.39_39+19dup
ENST00000373588.8:c.245-233_245-214dup	ENSP00000362690.4:n.245-233_245-214dup
ENST00000455734.1:c.245-233_245-214dup	ENSP00000393245.1:n.245-233_245-214dup
ENST00000620110.4:c.245-233_245-214dup	ENSP00000483309.1:n.245-233_245-214dup
NM_004959.4:c.245-233_245-214dup	NP_004950.2:n.245-233_245-214dup
XM_005251871.2:c.245-233_245-214dup	XP_005251928.1:n.245-233_245-214dup
XM_005251872.3:c.-17-233_-17-214dup	XP_005251929.1:n.-17-233_-17-214dup
XM_011518455.1:c.245-233_245-214dup	XP_011516757.1:n.245-233_245-214dup
XM_011518456.1:c.245-233_245-214dup	XP_011516758.1:n.245-233_245-214dup
NM_004959.5:c.245-233_245-214dup MANE Select	NP_004950.2:n.245-233_245-214dup