Canonical Allele Identifier: CA1878470257

Gene: NR5A1

Linked Data

• dbSNP Id: rs1832463185

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500973_124500975del , CM000671.2:g.124500973_124500975del	GRCh38
NC_000009.11:g.127263252_127263254del , CM000671.1:g.127263252_127263254del	GRCh37
NC_000009.10:g.126303073_126303075del	NCBI36
NG_008176.1:g.11448_11450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.245-258_245-256del MANE Select	ENSP00000362690.4:n.245-258_245-256del
ENST00000373587.3:c.14_16del	ENSP00000362689.3:p.Gly5del
ENST00000373588.8:c.245-258_245-256del	ENSP00000362690.4:n.245-258_245-256del
ENST00000455734.1:c.245-258_245-256del	ENSP00000393245.1:n.245-258_245-256del
ENST00000620110.4:c.245-258_245-256del	ENSP00000483309.1:n.245-258_245-256del
NM_004959.4:c.245-258_245-256del	NP_004950.2:n.245-258_245-256del
XM_005251871.2:c.245-258_245-256del	XP_005251928.1:n.245-258_245-256del
XM_005251872.3:c.-17-258_-17-256del	XP_005251929.1:n.-17-258_-17-256del
XM_011518455.1:c.245-258_245-256del	XP_011516757.1:n.245-258_245-256del
XM_011518456.1:c.245-258_245-256del	XP_011516758.1:n.245-258_245-256del
NM_004959.5:c.245-258_245-256del MANE Select	NP_004950.2:n.245-258_245-256del