Canonical Allele Identifier: CA2785906314

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503223_124503295del , CM000671.2:g.124503223_124503295del	GRCh38
NC_000009.11:g.127265502_127265574del , CM000671.1:g.127265502_127265574del	GRCh37
NC_000009.10:g.126305323_126305395del	NCBI36
NG_008176.1:g.9129_9201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.102+2_103del
ENST00000373588.8:c.102+2_103del
ENST00000455734.1:c.102+2_103del
ENST00000620110.4:c.102+2_103del
NM_004959.4:c.102+2_103del
XM_005251871.2:c.102+2_103del
XM_005251872.3:c.-18+2_-18+74del
XM_011518455.1:c.102+2_103del
XM_011518456.1:c.102+2_103del
NM_004959.5:c.102+2_103del