Canonical Allele Identifier: CA1219157665

Gene: NR5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038415_200038417delinsCTA , CM000663.2:g.200038415_200038417delinsCTA	GRCh38
NC_000001.10:g.200007543_200007545delinsCTA , CM000663.1:g.200007543_200007545delinsCTA	GRCh37
NC_000001.9:g.198274166_198274168delinsCTA	NCBI36
NG_050913.1:g.15814_15816delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-1243_65-1241delinsCTA MANE Select	ENSP00000356331.3:n.65-1243_65-1241delinsCTA
ENST00000236914.7:c.65-5359_65-5357delinsCTA	ENSP00000236914.3:n.65-5359_65-5357delinsCTA
ENST00000367362.7:c.65-1243_65-1241delinsCTA	ENSP00000356331.3:n.65-1243_65-1241delinsCTA
ENST00000447034.1:c.30-286_30-284delinsCTA
ENST00000474307.1:c.*419-5359_*419-5357delinsCTA	ENSP00000436776.1:n.*419-5359_*419-5357delinsCTA
NM_003822.4:c.65-5359_65-5357delinsCTA	NP_003813.1:n.65-5359_65-5357delinsCTA
NM_205860.2:c.65-1243_65-1241delinsCTA	NP_995582.1:n.65-1243_65-1241delinsCTA
XM_011509380.1:c.-56-1243_-56-1241delinsCTA	XP_011507682.1:n.-56-1243_-56-1241delinsCTA
XM_011509382.1:c.-14-5359_-14-5357delinsCTA	XP_011507684.1:n.-14-5359_-14-5357delinsCTA
XM_011509381.3:c.-414_-412delinsCTA	XP_011507683.1:n.-414_-412delinsCTA
NM_205860.3:c.65-1243_65-1241delinsCTA MANE Select	NP_995582.1:n.65-1243_65-1241delinsCTA
NM_003822.5:c.65-5359_65-5357delinsCTA	NP_003813.1:n.65-5359_65-5357delinsCTA