Canonical Allele Identifier: CA2691629213

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124500920-CCCTCTCCTTCCACTCCACCGAACTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500925_124500950del , CM000671.2:g.124500925_124500950del	GRCh38
NC_000009.11:g.127263204_127263229del , CM000671.1:g.127263204_127263229del	GRCh37
NC_000009.10:g.126303025_126303050del	NCBI36
NG_008176.1:g.11475_11500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.245-231_245-206del MANE Select	ENSP00000362690.4:n.245-231_245-206del
ENST00000373587.3:c.39+2_39+27del
ENST00000373588.8:c.245-231_245-206del	ENSP00000362690.4:n.245-231_245-206del
ENST00000455734.1:c.245-231_245-206del	ENSP00000393245.1:n.245-231_245-206del
ENST00000620110.4:c.245-231_245-206del	ENSP00000483309.1:n.245-231_245-206del
NM_004959.4:c.245-231_245-206del	NP_004950.2:n.245-231_245-206del
XM_005251871.2:c.245-231_245-206del	XP_005251928.1:n.245-231_245-206del
XM_005251872.3:c.-17-231_-17-206del	XP_005251929.1:n.-17-231_-17-206del
XM_011518455.1:c.245-231_245-206del	XP_011516757.1:n.245-231_245-206del
XM_011518456.1:c.245-231_245-206del	XP_011516758.1:n.245-231_245-206del
NM_004959.5:c.245-231_245-206del MANE Select	NP_004950.2:n.245-231_245-206del