Canonical Allele Identifier: CA1878473612

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503490_124503533delinsTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGC , CM000671.2:g.124503490_124503533delinsTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGC	GRCh38
NC_000009.11:g.127265769_127265812delinsTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGC , CM000671.1:g.127265769_127265812delinsTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGC	GRCh37
NC_000009.10:g.126305590_126305633delinsTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGC	NCBI36
NG_008176.1:g.8888_8931delinsGCAGCGCCTGGGCACAGAGAGGGGATTACGCGACGGGCCGGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAGGGGATTACGCGACGGGCCGGCGA MANE Select	ENSP00000362690.4:n.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAG...
ENST00000373588.8:c.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAGGGGATTACGCGACGGGCCGGCGA	ENSP00000362690.4:n.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAG...
ENST00000455734.1:c.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAGGGGATTACGCGACGGGCCGGCGA	ENSP00000393245.1:n.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAG...
ENST00000620110.4:c.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAGGGGATTACGCGACGGGCCGGCGA	ENSP00000483309.1:n.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAG...
NM_004959.4:c.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAGGGGATTACGCGACGGGCCGGCGA	NP_004950.2:n.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAGGGGATT...
XM_005251871.2:c.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAGGGGATTACGCGACGGGCCGGCGA	XP_005251928.1:n.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAGGGG...
XM_005251872.3:c.-134-123_-134-80delinsGCAGCGCCTGGGCACAGAGAGGGGATTACGCGACGGGCCGGCGA	XP_005251929.1:n.-134-123_-134-80delinsGCAGCGCCTGGGCACAGAGAGG...
XM_011518455.1:c.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAGGGGATTACGCGACGGGCCGGCGA	XP_011516757.1:n.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAGGGG...
XM_011518456.1:c.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAGGGGATTACGCGACGGGCCGGCGA	XP_011516758.1:n.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAGGGG...
NM_004959.5:c.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAGGGGATTACGCGACGGGCCGGCGA MANE Select	NP_004950.2:n.-15-123_-15-80delinsGCAGCGCCTGGGCACAGAGAGGGGATT...