Canonical Allele Identifier: CA2691629358

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124500980-CCTCCACCCTGCCTTTCATTTTCCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500983_124501007del , CM000671.2:g.124500983_124501007del	GRCh38
NC_000009.11:g.127263262_127263286del , CM000671.1:g.127263262_127263286del	GRCh37
NC_000009.10:g.126303083_126303107del	NCBI36
NG_008176.1:g.11416_11440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.245-290_245-266del MANE Select	ENSP00000362690.4:n.245-290_245-266del
ENST00000373588.8:c.245-290_245-266del	ENSP00000362690.4:n.245-290_245-266del
ENST00000455734.1:c.245-290_245-266del	ENSP00000393245.1:n.245-290_245-266del
ENST00000620110.4:c.245-290_245-266del	ENSP00000483309.1:n.245-290_245-266del
NM_004959.4:c.245-290_245-266del	NP_004950.2:n.245-290_245-266del
XM_005251871.2:c.245-290_245-266del	XP_005251928.1:n.245-290_245-266del
XM_005251872.3:c.-17-290_-17-266del	XP_005251929.1:n.-17-290_-17-266del
XM_011518455.1:c.245-290_245-266del	XP_011516757.1:n.245-290_245-266del
XM_011518456.1:c.245-290_245-266del	XP_011516758.1:n.245-290_245-266del
NM_004959.5:c.245-290_245-266del MANE Select	NP_004950.2:n.245-290_245-266del