Canonical Allele Identifier: CA1219157782

Gene: NR5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200038635_200038636delinsAT , CM000663.2:g.200038635_200038636delinsAT	GRCh38
NC_000001.10:g.200007763_200007764delinsAT , CM000663.1:g.200007763_200007764delinsAT	GRCh37
NC_000001.9:g.198274386_198274387delinsAT	NCBI36
NG_050913.1:g.16034_16035delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367362.8:c.65-1023_65-1022delinsAT MANE Select	ENSP00000356331.3:n.65-1023_65-1022delinsAT
ENST00000236914.7:c.65-5139_65-5138delinsAT	ENSP00000236914.3:n.65-5139_65-5138delinsAT
ENST00000367362.7:c.65-1023_65-1022delinsAT	ENSP00000356331.3:n.65-1023_65-1022delinsAT
ENST00000447034.1:c.30-66_30-65delinsAT
ENST00000474307.1:c.*419-5139_*419-5138delinsAT	ENSP00000436776.1:n.*419-5139_*419-5138delinsAT
NM_003822.4:c.65-5139_65-5138delinsAT	NP_003813.1:n.65-5139_65-5138delinsAT
NM_205860.2:c.65-1023_65-1022delinsAT	NP_995582.1:n.65-1023_65-1022delinsAT
XM_011509380.1:c.-56-1023_-56-1022delinsAT	XP_011507682.1:n.-56-1023_-56-1022delinsAT
XM_011509382.1:c.-14-5139_-14-5138delinsAT	XP_011507684.1:n.-14-5139_-14-5138delinsAT
XM_011509381.3:c.-194_-193delinsAT	XP_011507683.1:n.-194_-193delinsAT
NM_205860.3:c.65-1023_65-1022delinsAT MANE Select	NP_995582.1:n.65-1023_65-1022delinsAT
NM_003822.5:c.65-5139_65-5138delinsAT	NP_003813.1:n.65-5139_65-5138delinsAT