Canonical Allele Identifier: CA2695199408

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 2630854
• ClinVar RCV Id: RCV003404228

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500710_124500756del , CM000671.2:g.124500710_124500756del	GRCh38
NC_000009.11:g.127262989_127263035del , CM000671.1:g.127262989_127263035del	GRCh37
NC_000009.10:g.126302810_126302856del	NCBI36
NG_008176.1:g.11667_11713del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.245-39_252del
ENST00000373587.3:c.39+194_39+240del	ENSP00000362689.3:n.39+194_39+240del
ENST00000373588.8:c.245-39_252del
ENST00000455734.1:c.245-39_252del
ENST00000620110.4:c.245-39_252del
NM_004959.4:c.245-39_252del
XM_005251871.2:c.245-39_252del
XM_005251872.3:c.-17-39_-10del
XM_011518455.1:c.245-39_252del
XM_011518456.1:c.245-39_252del
NM_004959.5:c.245-39_252del