Canonical Allele Identifier: CA2691630932

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124503414-C-CGGAGGGACAGCGGGTCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503421_124503438dup , CM000671.2:g.124503421_124503438dup	GRCh38
NC_000009.11:g.127265700_127265717dup , CM000671.1:g.127265700_127265717dup	GRCh37
NC_000009.10:g.126305521_126305538dup	NCBI36
NG_008176.1:g.8989_9006dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.-15-22_-15-5dup MANE Select	ENSP00000362690.4:n.-15-22_-15-5dup
ENST00000373588.8:c.-15-22_-15-5dup	ENSP00000362690.4:n.-15-22_-15-5dup
ENST00000455734.1:c.-15-22_-15-5dup	ENSP00000393245.1:n.-15-22_-15-5dup
ENST00000620110.4:c.-15-22_-15-5dup	ENSP00000483309.1:n.-15-22_-15-5dup
NM_004959.4:c.-15-22_-15-5dup	NP_004950.2:n.-15-22_-15-5dup
XM_005251871.2:c.-15-22_-15-5dup	XP_005251928.1:n.-15-22_-15-5dup
XM_005251872.3:c.-134-22_-134-5dup	XP_005251929.1:n.-134-22_-134-5dup
XM_011518455.1:c.-15-22_-15-5dup	XP_011516757.1:n.-15-22_-15-5dup
XM_011518456.1:c.-15-22_-15-5dup	XP_011516758.1:n.-15-22_-15-5dup
NM_004959.5:c.-15-22_-15-5dup MANE Select	NP_004950.2:n.-15-22_-15-5dup