Canonical Allele Identifier: CA2499219610

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 1068954
• ClinVar RCV Id: RCV001380659
• dbSNP Id: rs2131289687

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503080_124503092del , CM000671.2:g.124503080_124503092del	GRCh38
NC_000009.11:g.127265359_127265371del , CM000671.1:g.127265359_127265371del	GRCh37
NC_000009.10:g.126305180_126305192del	NCBI36
NG_008176.1:g.9330_9342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.232_244del MANE Select	ENSP00000362690.4:p.Met78ProfsTer7
ENST00000373588.8:c.232_244del	ENSP00000362690.4:p.Met78ProfsTer7
ENST00000455734.1:c.232_244del	ENSP00000393245.1:p.Met78ProfsTer7
ENST00000620110.4:c.232_244del	ENSP00000483309.1:p.Met78ProfsTer7
NM_004959.4:c.232_244del	NP_004950.2:p.Met78ProfsTer7
XM_005251871.2:c.232_244del	XP_005251928.1:p.Met78ProfsTer7
XM_005251872.3:c.-18+203_-18+215del	XP_005251929.1:n.-18+203_-18+215del
XM_011518455.1:c.232_244del	XP_011516757.1:p.Met78ProfsTer7
XM_011518456.1:c.232_244del	XP_011516758.1:p.Met78ProfsTer7
NM_004959.5:c.232_244del MANE Select	NP_004950.2:p.Met78ProfsTer7