Canonical Allele Identifier: CA590936669

Gene: NR5A1

Linked Data

• dbSNP Id: rs1564152526
• gnomAD v2: 9-127262770-GTGGACCGGC-G
• gnomAD v4: 9-124500491-GTGGACCGGC-G
• MyVariant Identifiers: chr9:g.127262771_127262779del (hg19) ; chr9:g.124500492_124500500del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500492_124500500del , CM000671.2:g.124500492_124500500del	GRCh38
NC_000009.11:g.127262771_127262779del , CM000671.1:g.127262771_127262779del	GRCh37
NC_000009.10:g.126302592_126302600del	NCBI36
NG_008176.1:g.11921_11929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.460_468del MANE Select	ENSP00000362690.4:p.Ala154_Pro156del
ENST00000373587.3:c.40-228_40-220del	ENSP00000362689.3:n.40-228_40-220del
ENST00000373588.8:c.460_468del	ENSP00000362690.4:p.Ala154_Pro156del
ENST00000455734.1:c.460_468del	ENSP00000393245.1:p.Ala154_Pro156del
ENST00000620110.4:c.460_468del	ENSP00000483309.1:p.Ala154_Pro156del
NM_004959.4:c.460_468del	NP_004950.2:p.Ala154_Pro156del
XM_005251871.2:c.460_468del	XP_005251928.1:p.Ala154_Pro156del
XM_005251872.3:c.199_207del	XP_005251929.1:p.Ala67_Pro69del
XM_011518455.1:c.460_468del	XP_011516757.1:p.Ala154_Pro156del
XM_011518456.1:c.460_468del	XP_011516758.1:p.Ala154_Pro156del
NM_004959.5:c.460_468del MANE Select	NP_004950.2:p.Ala154_Pro156del