Canonical Allele Identifier: CA5235502

Gene: NR5A1

Linked Data

• dbSNP Id: rs757624262
• ExAC: 9:127262908 CCTT / C
• gnomAD v2: 9-127262908-CCTT-C
• gnomAD v4: 9-124500629-CCTT-C
• MyVariant Identifiers: chr9:g.127262909_127262911del (hg19) ; chr9:g.124500630_124500632del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500635_124500637del , CM000671.2:g.124500635_124500637del	GRCh38
NC_000009.11:g.127262914_127262916del , CM000671.1:g.127262914_127262916del	GRCh37
NC_000009.10:g.126302735_126302737del	NCBI36
NG_008176.1:g.11789_11791del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.328_330del MANE Select	ENSP00000362690.4:p.Lys110del
ENST00000373587.3:c.39+316_39+318del	ENSP00000362689.3:n.39+316_39+318del
ENST00000373588.8:c.328_330del	ENSP00000362690.4:p.Lys110del
ENST00000455734.1:c.328_330del	ENSP00000393245.1:p.Lys110del
ENST00000620110.4:c.328_330del	ENSP00000483309.1:p.Lys110del
NM_004959.4:c.328_330del	NP_004950.2:p.Lys110del
XM_005251871.2:c.328_330del	XP_005251928.1:p.Lys110del
XM_005251872.3:c.67_69del	XP_005251929.1:p.Lys23del
XM_011518455.1:c.328_330del	XP_011516757.1:p.Lys110del
XM_011518456.1:c.328_330del	XP_011516758.1:p.Lys110del
NM_004959.5:c.328_330del MANE Select	NP_004950.2:p.Lys110del