Canonical Allele Identifier: CA2649706516

Gene: NR5A2

Linked Data

• gnomAD v4: 1-200038642-A-AAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038642_200038643insAGGG , CM000663.2:g.200038642_200038643insAGGG	GRCh38
NC_000001.10:g.200007770_200007771insAGGG , CM000663.1:g.200007770_200007771insAGGG	GRCh37
NC_000001.9:g.198274393_198274394insAGGG	NCBI36
NG_050913.1:g.16041_16042insAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-1016_65-1015insAGGG MANE Select	ENSP00000356331.3:n.65-1016_65-1015insAGGG
ENST00000236914.7:c.65-5132_65-5131insAGGG	ENSP00000236914.3:n.65-5132_65-5131insAGGG
ENST00000367362.7:c.65-1016_65-1015insAGGG	ENSP00000356331.3:n.65-1016_65-1015insAGGG
ENST00000447034.1:c.30-59_30-58insAGGG
ENST00000474307.1:c.*419-5132_*419-5131insAGGG	ENSP00000436776.1:n.*419-5132_*419-5131insAGGG
NM_003822.4:c.65-5132_65-5131insAGGG	NP_003813.1:n.65-5132_65-5131insAGGG
NM_205860.2:c.65-1016_65-1015insAGGG	NP_995582.1:n.65-1016_65-1015insAGGG
XM_011509380.1:c.-56-1016_-56-1015insAGGG	XP_011507682.1:n.-56-1016_-56-1015insAGGG
XM_011509382.1:c.-14-5132_-14-5131insAGGG	XP_011507684.1:n.-14-5132_-14-5131insAGGG
XM_011509381.3:c.-187_-186insAGGG	XP_011507683.1:n.-187_-186insAGGG
NM_205860.3:c.65-1016_65-1015insAGGG MANE Select	NP_995582.1:n.65-1016_65-1015insAGGG
NM_003822.5:c.65-5132_65-5131insAGGG	NP_003813.1:n.65-5132_65-5131insAGGG