Canonical Allele Identifier: CA1878473591

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503470_124503482delinsGGCCGCCGCCCCA , CM000671.2:g.124503470_124503482delinsGGCCGCCGCCCCA	GRCh38
NC_000009.11:g.127265749_127265761delinsGGCCGCCGCCCCA , CM000671.1:g.127265749_127265761delinsGGCCGCCGCCCCA	GRCh37
NC_000009.10:g.126305570_126305582delinsGGCCGCCGCCCCA	NCBI36
NG_008176.1:g.8939_8951delinsTGGGGCGGCGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.-15-72_-15-60delinsTGGGGCGGCGGCC MANE Select	ENSP00000362690.4:n.-15-72_-15-60delinsTGGGGCGGCGGCC
ENST00000373588.8:c.-15-72_-15-60delinsTGGGGCGGCGGCC	ENSP00000362690.4:n.-15-72_-15-60delinsTGGGGCGGCGGCC
ENST00000455734.1:c.-15-72_-15-60delinsTGGGGCGGCGGCC	ENSP00000393245.1:n.-15-72_-15-60delinsTGGGGCGGCGGCC
ENST00000620110.4:c.-15-72_-15-60delinsTGGGGCGGCGGCC	ENSP00000483309.1:n.-15-72_-15-60delinsTGGGGCGGCGGCC
NM_004959.4:c.-15-72_-15-60delinsTGGGGCGGCGGCC	NP_004950.2:n.-15-72_-15-60delinsTGGGGCGGCGGCC
XM_005251871.2:c.-15-72_-15-60delinsTGGGGCGGCGGCC	XP_005251928.1:n.-15-72_-15-60delinsTGGGGCGGCGGCC
XM_005251872.3:c.-134-72_-134-60delinsTGGGGCGGCGGCC	XP_005251929.1:n.-134-72_-134-60delinsTGGGGCGGCGGCC
XM_011518455.1:c.-15-72_-15-60delinsTGGGGCGGCGGCC	XP_011516757.1:n.-15-72_-15-60delinsTGGGGCGGCGGCC
XM_011518456.1:c.-15-72_-15-60delinsTGGGGCGGCGGCC	XP_011516758.1:n.-15-72_-15-60delinsTGGGGCGGCGGCC
NM_004959.5:c.-15-72_-15-60delinsTGGGGCGGCGGCC MANE Select	NP_004950.2:n.-15-72_-15-60delinsTGGGGCGGCGGCC