Canonical Allele Identifier: CA1878473593

Gene: NR5A1

Linked Data

• dbSNP Id: rs1832499843
• gnomAD v4: 9-124503470-GGCCGCCGCCCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503476_124503487del , CM000671.2:g.124503476_124503487del	GRCh38
NC_000009.11:g.127265755_127265766del , CM000671.1:g.127265755_127265766del	GRCh37
NC_000009.10:g.126305576_126305587del	NCBI36
NG_008176.1:g.8939_8950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.-15-72_-15-61del MANE Select	ENSP00000362690.4:n.-15-72_-15-61del
ENST00000373588.8:c.-15-72_-15-61del	ENSP00000362690.4:n.-15-72_-15-61del
ENST00000455734.1:c.-15-72_-15-61del	ENSP00000393245.1:n.-15-72_-15-61del
ENST00000620110.4:c.-15-72_-15-61del	ENSP00000483309.1:n.-15-72_-15-61del
NM_004959.4:c.-15-72_-15-61del	NP_004950.2:n.-15-72_-15-61del
XM_005251871.2:c.-15-72_-15-61del	XP_005251928.1:n.-15-72_-15-61del
XM_005251872.3:c.-134-72_-134-61del	XP_005251929.1:n.-134-72_-134-61del
XM_011518455.1:c.-15-72_-15-61del	XP_011516757.1:n.-15-72_-15-61del
XM_011518456.1:c.-15-72_-15-61del	XP_011516758.1:n.-15-72_-15-61del
NM_004959.5:c.-15-72_-15-61del MANE Select	NP_004950.2:n.-15-72_-15-61del