Canonical Allele Identifier: CA2649706454

Gene: NR5A2

Linked Data

• gnomAD v4: 1-200038567-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038569del , CM000663.2:g.200038569del	GRCh38
NC_000001.10:g.200007697del , CM000663.1:g.200007697del	GRCh37
NC_000001.9:g.198274320del	NCBI36
NG_050913.1:g.15968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-1089del MANE Select	ENSP00000356331.3:n.65-1089del
ENST00000236914.7:c.65-5205del	ENSP00000236914.3:n.65-5205del
ENST00000367362.7:c.65-1089del	ENSP00000356331.3:n.65-1089del
ENST00000447034.1:c.30-132del
ENST00000474307.1:c.*419-5205del	ENSP00000436776.1:n.*419-5205del
NM_003822.4:c.65-5205del	NP_003813.1:n.65-5205del
NM_205860.2:c.65-1089del	NP_995582.1:n.65-1089del
XM_011509380.1:c.-56-1089del	XP_011507682.1:n.-56-1089del
XM_011509382.1:c.-14-5205del	XP_011507684.1:n.-14-5205del
XM_011509381.3:c.-260del	XP_011507683.1:n.-260del
NM_205860.3:c.65-1089del MANE Select	NP_995582.1:n.65-1089del
NM_003822.5:c.65-5205del	NP_003813.1:n.65-5205del