Canonical Allele Identifier: CA16618732

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 424563
• ClinVar RCV Id: RCV000480927
• dbSNP Id: rs1554721033
• MyVariant Identifiers: chr9:g.127253415_127253435dup21 (hg19) ; chr9:g.127253414_127253415insCAGCGCAAGCAGCTGCAGCAC (hg19) ; chr9:g.124491136_124491156dup21 (hg38) ; chr9:g.124491135_124491136insCAGCGCAAGCAGCTGCAGCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124491140_124491160dup , CM000671.2:g.124491140_124491160dup	GRCh38
NC_000009.11:g.127253419_127253439dup , CM000671.1:g.127253419_127253439dup	GRCh37
NC_000009.10:g.126293240_126293260dup	NCBI36
NG_008176.1:g.21265_21285dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.1063_1083dup MANE Select	ENSP00000362690.4:p.Leu361_Gln362insValLeuGlnLeuLeuAlaLeu
ENST00000373587.3:c.415_435dup	ENSP00000362689.3:p.Leu145_Gln146insValLeuGlnLeuLeuAlaLeu
ENST00000373588.8:c.1063_1083dup	ENSP00000362690.4:p.Leu361_Gln362insValLeuGlnLeuLeuAlaLeu
ENST00000620110.4:c.943_963dup	ENSP00000483309.1:p.Leu321_Gln322insValLeuGlnLeuLeuAlaLeu
NM_004959.4:c.1063_1083dup	NP_004950.2:p.Leu361_Gln362insValLeuGlnLeuLeuAlaLeu
XM_005251871.2:c.1063_1083dup	XP_005251928.1:p.Leu361_Gln362insValLeuGlnLeuLeuAlaLeu
XM_005251872.3:c.802_822dup	XP_005251929.1:p.Leu274_Gln275insValLeuGlnLeuLeuAlaLeu
XM_011518455.1:c.1063_1083dup	XP_011516757.1:p.Leu361_Gln362insValLeuGlnLeuLeuAlaLeu
XM_011518456.1:c.871-8151_871-8131dup	XP_011516758.1:n.871-8151_871-8131dup
NM_004959.5:c.1063_1083dup MANE Select	NP_004950.2:p.Leu361_Gln362insValLeuGlnLeuLeuAlaLeu